name: spinocerebellar ataxia, autosomal recessive 22

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.


name: spinocerebellar ataxia, autosomal recessive 23

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


spermatogenic failure 15

description: Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.


name: TELO2-related intellectual disability-neurodevelopmental disorder


name: retinitis pigmentosa and erythrocytic microcytosis


hypercalcemia, infantile, 2

description: Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


name: autosomal dominant nonsyndromic hearing loss 70

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.


name: autosomal dominant nonsyndromic hearing loss 66

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.


name: intellectual disability, autosomal dominant 42

description: Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.


name: combined oxidative phosphorylation defect type 30

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.


name: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


name: intellectual disability, autosomal dominant 43

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.


name: developmental and epileptic encephalopathy, 37

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


polycystic liver disease 2

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.


name: autoimmune disease, multisystem, infantile-onset, 2

description: Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.


cerebral palsy, spastic quadriplegic, 3

description: Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.


name: macrocephaly, dysmorphic facies, and psychomotor retardation


hypermanganesemia with dystonia 2

description: Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.


name: autosomal recessive severe congenital neutropenia due to CSF3R deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF.


name: Charcot-Marie-Tooth disease axonal type 2T

description: A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.


spinocerebellar ataxia 43

description: Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.


name: developmental and epileptic encephalopathy, 38

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.


name: hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


NEK9-related lethal skeletal dysplasia

description: NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


retinitis pigmentosa 75

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.


name: congenital stationary night blindness 1H

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.


nevus comedonicus syndrome

description: A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


pontocerebellar hypoplasia, type 2F

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.


name: intellectual disability, autosomal recessive 54

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.


myopathy, distal, 5

description: Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.


name: Duane retraction syndrome 3 with or without deafness

description: Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.


hereditary spastic paraplegia 77

description: Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.


hypertrophic cardiomyopathy 26

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.


name: cholestasis, progressive familial intrahepatic, 5

description: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.


Hermansky-Pudlak syndrome 10

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.


name: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


bone marrow failure syndrome 3

description: Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.


MIRAGE syndrome

description: An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.


PERCHING syndrome

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.


name: hyperuricemic nephropathy, familial juvenile type 4

description: Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.


name: micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


Meier-Gorlin syndrome 7

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.


name: developmental and epileptic encephalopathy, 40

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

description: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

description: An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.


name: autosomal recessive limb-girdle muscular dystrophy type 2Y

description: Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.


tooth agenesis, selective, 8

description: Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.


name: nasopharyngeal carcinoma, susceptibility to, 3

description: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.


seizures, benign familial infantile, 5

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.


name: congenital disorder of glycosylation, type IAA


name: encephalopathy due to defective mitochondrial and peroxisomal fission 2


name: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

description: An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.


name: short-rib thoracic dysplasia 15 with polydactyly


name: microcephaly 17, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.


primary ciliary dyskinesia 34

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.


primary ciliary dyskinesia 35

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.


name: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

description: A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.


name: infantile-onset periodic fever-panniculitis-dermatosis syndrome

description: An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.


Dias-Logan syndrome

description: Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.


name: short-rib thoracic dysplasia 16 with or without polydactyly


name: developmental and epileptic encephalopathy, 41

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.


name: developmental and epileptic encephalopathy, 42

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.


name: tall stature-intellectual disability-renal anomalies syndrome


name: sessile serrated polyposis cancer syndrome


patterned macular dystrophy 3

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.


name: developmental and epileptic encephalopathy, 43

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


myofibrillar myopathy 7

description: Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.


peeling skin syndrome 5

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.


name: epilepsy, familial focal, with variable foci 2

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


name: epilepsy, familial focal, with variable foci 3

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


Bardet-Biedl syndrome 22

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.


Joubert syndrome 27

description: Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.


Joubert syndrome 28

description: Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.


retinitis pigmentosa 76

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.


name: intellectual disability, autosomal recessive 56

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.


name: developmental and epileptic encephalopathy, 44

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.


name: spinocerebellar ataxia, autosomal recessive 24

description: Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.


frontometaphyseal dysplasia 2

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.


aniridia 3

description: Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.


congenital myasthenic syndrome 20

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.


name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset


name: arthrogryposis, distal, with impaired proprioception and touch


name: developmental and epileptic encephalopathy, 45

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.


name: mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.


name: short stature-brachydactyly-obesity-global developmental delay syndrome


name: developmental and epileptic encephalopathy, 46

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


name: short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay


name: developmental and epileptic encephalopathy, 47

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


aortic aneurysm, familial thoracic 10

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.


name: intellectual developmental disorder, autosomal recessive 74

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.


name: gnb5-related intellectual disability-cardiac arrhythmia syndrome

description: An autosomal recessive condition caused by mutation(s) in the GNB5 gene, encoding guanine nucleotide-binding protein subunit beta-5. It is characterized by severe intellectual disability, poor speech acquisition, and cardiac arrhythmia. Biallelic missense mutation in the GNB5 gene can cause language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, which is a less-severe disorder with overlapping features.


name: Ehlers-Danlos syndrome, periodontal type 2


RCBTB1-related retinopathy

description: An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.


name: language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


Harel-Yoon syndrome

description: A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.


name: mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy


spermatogenic failure 16

description: Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.


name: intellectual disability, autosomal recessive 57

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.


name: lethal congenital contracture syndrome 11

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.


periventricular nodular heterotopia 7

description: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.


heterotaxy, visceral, 8, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


name: encephalopathy, progressive, with amyotrophy and optic atrophy


spermatogenic failure 17

description: Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.


name: amelogenesis imperfecta, hypomaturation type, IIa6


name: chromosome 19q13.11 deletion syndrome, proximal

description: Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.


name: autosomal recessive spastic paraplegia type 78

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.


name: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

description: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.


name: autosomal recessive limb-girdle muscular dystrophy type 2R1

description: An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.


immunodeficiency 49

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.


myopia 25, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.


congenital myasthenic syndrome 21

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.


name: lung disease, immunodeficiency, and chromosome breakage syndrome;


Fanconi anemia complementation group V

description: Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.


Fanconi anemia complementation group R

description: Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.


Fanconi anemia complementation group U

description: Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.


uncombable hair syndrome 2

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.


uncombable hair syndrome 3

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.


Seckel syndrome 10

description: Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.


lissencephaly 8

description: Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.


myofibrillar myopathy 8

description: Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.


name: global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies


name: neurodevelopmental disorder with hypotonia, seizures, and absent language


name: intellectual disability, autosomal recessive 58

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.


nephronophthisis 20

description: Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.


tooth agenesis, selective, 9

description: Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.


name: developmental and epileptic encephalopathy, 48

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.


atrial fibrillation, familial, 18

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.


name: developmental and epileptic encephalopathy, 49

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.


name: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


dystonia 28, childhood-onset

description: Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.


name: epilepsy, early-onset, vitamin B6-dependent


name: epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


name: spastic paraplegia, intellectual disability, nystagmus, and obesity


atypical glycine encephalopathy

description: Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.


optic atrophy 11

description: Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.


retinitis pigmentosa 77

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.


name: coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness


congenital bile acid synthesis defect 6

description: Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.


anterior segment dysgenesis 8

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.


name: ichthyosis, congenital, autosomal recessive 12

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.


Yao syndrome

description: An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.


name: intellectual disability, autosomal recessive 59

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.


name: hypotonia, ataxia, and delayed development syndrome


name: intellectual developmental disorder with dysmorphic facies and ptosis


MYPN-related myopathy

description: Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.


name: ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

description: Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.


name: developmental and epileptic encephalopathy, 51

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


name: cerebroretinal microangiopathy with calcifications and cysts 2

description: Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.


familial isolated hyperparathyroidism

description: A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.


48,XXYY syndrome

description: The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.


extraneural perineurioma

description: Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.


intraneural perineurioma

description: A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.


ABeta amyloidosis, dutch type

description: Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.


name: lissencephaly with cerebellar hypoplasia type A

description: Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.


name: lissencephaly with cerebellar hypoplasia type B

description: Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.


name: lissencephaly with cerebellar hypoplasia type C

description: Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.


name: lissencephaly with cerebellar hypoplasia type D

description: Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.


name: lissencephaly with cerebellar hypoplasia type E

description: Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.


name: lissencephaly with cerebellar hypoplasia type F

description: Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.


name: myelodysplastic syndrome with excess blasts-1

description: A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)


name: myelodysplastic syndrome with excess blasts-2

description: A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)


mu-heavy chain disease

description: Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).


alpha-heavy chain disease

description: Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.


gamma-heavy chain disease

description: Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


solitary necrotic nodule of the liver

description: Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.


esophageal duplication cyst

description: A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.


tubular duplication of the esophagus

description: Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.


hereditary angioedema type 1

description: Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


hereditary angioedema type 2

description: Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


acquired angioedema type 2

description: Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


acquired angioedema type 1

description: Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


description: Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


progressive non-fluent aphasia

description: Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.


mosaic trisomy 3

description: Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.


neurogenic thoracic outlet syndrome

description: Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.


name: gastric neuroendocrine tumor, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach.


name: duodenal neuroendocrine tumor, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.


name: jejunal neuroendocrine tumor, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum.


name: ileal neuroendocrine tumor, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.


name: neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.


name: neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.


name: neuroendocrine tumor of rectum, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.


neuroendocrine tumor of the anal canal

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.


laryngeal neuroendocrine neoplasm

description: A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.


middle ear neuroendocrine tumor

description: A neuroendocrine neoplasm that involves the middle ear.


liver neuroendocrine carcinoma

description: An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.


name: gallbladder neuroendocrine tumor, grade 1/2

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.


thyroid tumor

description: A benign or malignant neoplasm affecting the thyroid gland.


thyroid gland carcinoma

description: A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.


FRAXF syndrome

description: FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.


bathing suit ichthyosis

description: Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.


name: cloverleaf skull-asphyxiating thoracic dysplasia syndrome


name: autosomal dominant complex spastic paraplegia

description: Autosomal dominant form of complex hereditary spastic paraplegia.


name: autosomal dominant spastic paraplegia type 9

description: Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


familial hypofibrinogenemia

description: Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.


name: pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome

description: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.


porphyria cutanea tarda

description: The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.


name: congenital anomaly of the mitral subvalvular apparatus


primary adrenal insufficiency

description: A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.


chronic primary adrenal insufficiency

description: A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.


combined immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


constitutional neutropenia

description: A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.


periodic fever syndrome

description: Fevers of unknown etiology recurring over months or years.


name: early-onset autosomal dominant Alzheimer disease

description: A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.


complex hereditary spastic paraplegia

description: A hereditary spastic paraplegia that is part of a larger syndrome.


name: muscular dystrophy, limb-girdle, autosomal dominant

description: Autosomal dominant form of limb-girdle muscular dystrophy.


name: autosomal recessive limb-girdle muscular dystrophy

description: Autosomal recessive form of limb-girdle muscular dystrophy.


name: multiple congenital anomalies/dysmorphic syndrome-intellectual disability


name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability


name: acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

description: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).


name: acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

description: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.


name: acute myeloid leukemia with t(8;21)(q22;q22) translocation


amniotic band syndrome

description: A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


arthrogryposis multiplex congenita

description: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.


name: chronic diarrhea due to glucoamylase deficiency

description: This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency.


congenital sodium diarrhea

description: Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


name: congenital enterocyte heparan sulfate deficiency

description: Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.


autoimmune pancreatitis

description: Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.


undetermined colitis

description: Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.


metaphyseal anadysplasia

description: Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.


short bowel syndrome

description: Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.


intestinal polyposis syndrome

description: A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.


hydrops fetalis

description: Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).


sideroblastic anemia

description: A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.


atresia of urethra

description: Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.


vein of Galen aneurysm

description: Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.


aneurysm of sinus of Valsalva

description: Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


name: aniridia-ptosis-intellectual disability-familial obesity syndrome

description: Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.


name: aniridia - intellectual disability syndrome

description: Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.


anisakiasis

description: Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.


name: ankyloblepharon filiforme-imperforate anus syndrome

description: An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.


microlissencephaly

description: Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.


name: isolated lissencephaly type 1 without known genetic defects

description: Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.


name: short stature-heart defect-craniofacial anomalies syndrome


pentasomy X

description: Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).


Bardet-Biedl syndrome

description: A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems


description: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.


Bartter syndrome

description: Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


name: radial deficiency-tibial hypoplasia syndrome


caudal appendage-deafness syndrome

description: Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.


name: arachnodactyly-abnormal ossification-intellectual disability syndrome

description: Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.


description: Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.


aortic arch defects

description: Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.


arrhinia

description: Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.


description: Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.


digitotalar dysmorphism

description: Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.


arthrogryposis-like syndrome

description: Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.


allergic bronchopulmonary aspergillosis

description: Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.


autosomal recessive cerebellar ataxia

description: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.


opsoclonus-myoclonus syndrome

description: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.


description: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.


mitral atresia disorder

description: A congenital heart defect characterized by the complete atresia of the mitral valve.


description: Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.


name: severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome


Diamond-Blackfan anemia

description: A congenital aregenerative and often macrocytic anemia with erythroblastopenia.


schistosomiasis

description: An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.


name: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome


name: brachydactyly-mesomelia-intellectual disability-heart defects syndrome

description: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).


diphyllobothriasis

description: Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells).


pseudopelade of Brocq

description: Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.


brachyolmia

description: Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.


Brugada syndrome

description: A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.


cryptogenic organizing pneumonia

description: Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.


bronchiolitis obliterans syndrome

description: A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.


Feingold syndrome

description: Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.


medullary sponge kidney

description: Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.


symmetrical thalamic calcifications

description: Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.


butyrylcholinesterase deficiency

description: Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.


idiopathic camptocormia

description: Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.


camptodactyly-taurinuria syndrome

description: Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.


complete atrioventricular canal

description: Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.


chronic beryllium disease

description: Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.


partial atrioventricular canal

description: Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.


medullary thyroid gland carcinoma

description: A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.


familial pancreatic carcinoma

description: Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.


chronic mucocutaneous candidiasis

description: Mucocutaneous candidiasis that is persistent or long-standing in nature.


cardiofaciocutaneous syndrome

description: Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.


atrial standstill

description: Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.


name: cardiomyopathy-cataract-hip spine disease syndrome

description: Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.


name: maternally-inherited cardiomyopathy and hearing loss

description: Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.


heart-hand syndrome type 2

description: Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).


Carney complex

description: Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.


congenital disorder of glycosylation

description: Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.


herpes simplex virus keratitis

description: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)


infectious epithelial keratitis

description: Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.


neurotrophic keratopathy

description: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.


stromal keratitis

description: Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.


endotheliitis

description: An inflammatory disease involving a pathogenic inflammatory response in the endothelium.


name: segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

description: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.


nephrogenic systemic fibrosis

description: Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.


name: intractable diarrhea-choanal atresia-eye anomalies syndrome

description: Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.


cardiac anomalies-heterotaxy syndrome

description: Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.


Asherman syndrome

description: Adhesions or scar tissue that form inside the cavity of the uterus.


cataract - microcornea syndrome

description: Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.


primary cutaneous amyloidosis

description: Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.


nodular cutaneous amyloidosis

description: Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.


macular amyloidosis

description: Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.


arachnoiditis

description: Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.


Lemierre syndrome

description: Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.


Madras motor neuron disease

description: Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.


laminopathy type Decaudain-Vigouroux

description: Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.


autism-facial port-wine stain syndrome

description: This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.


choanal atresia, unilateral

description: Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.


choanal atresia, bilateral

description: Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.


primary laryngeal lymphangioma

description: Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.


neonatal brainstem dysfunction

description: Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.


congenital laryngeal palsy

description: Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.


name: cataract-intellectual disability-anal atresia-urinary defects syndrome

description: Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.


cataract-deafness-hypogonadism syndrome

description: Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.


name: night blindness-skeletal anomalies-dysmorphism syndrome

description: This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).


name: developmental anomaly of metabolic origin


progeroid syndrome

description: A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.


isolated craniosynostosis

description: A craniosynostosis that is not part of a larger syndrome.


syndromic craniosynostosis

description: A craniosynostosis that is part of a larger syndrome.


adrenomyeloneuropathy

description: An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.


name: drug rash with eosinophilia and systemic symptoms

description: DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.


congenital panfollicular nevus

description: Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.


acute transverse myelitis

description: Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).


idiopathic acute transverse myelitis

description: Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.


perioral myoclonia with absences

description: Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.


Jeavons syndrome

description: Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.


multicentric reticulohistiocytosis

description: Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.


name: leukoencephalopathy with bilateral anterior temporal lobe cysts

description: Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.


description: Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.


17q11.2 microduplication syndrome

description: 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.


neuropathy with hearing impairment

description: This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.


name: distal hereditary motor neuropathy type 2


name: neuronopathy, distal hereditary motor, type 5A


name: hereditary sensory and autonomic neuropathy with deafness and global delay

description: This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.


name: distal hereditary motor neuropathy type 7

description: Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.


hereditary neoplastic syndrome

description: The inherited predisposition toward getting a tumor.


name: secondary hypoparathyroidism due to impaired parathormon secretion


hereditary motor and sensory neuropathy

description: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


name: neuronopathy, distal hereditary motor, autosomal dominant

description: Autosomal dominant form of distal hereditary motor neuropathy.


name: neuronopathy, distal hereditary motor, autosomal recessive

description: Autosomal recessive form of distal hereditary motor neuropathy.


name: hereditary sensory and autonomic neuropathy

description: An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.


Charlie M syndrome

description: Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.


Joubert syndrome and related disorders

description: Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.


linear atrophoderma of Moulin

description: Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.


description: This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.


name: primary central nervous system vasculitis


orofaciodigital syndrome

description: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.


cervical dermoid cyst

description: Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.


facial dermoid cyst

description: Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.


commissural lip fistula

description: A cysts and fistulae of the face and oral cavity that involves the labial commissure.


lower lip fistula

description: A cysts and fistulae of the face and oral cavity that involves the lower lip.


name: digestive duplication cyst of the tongue

description: Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.


epignathus

description: Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.


nasolacrimal duct cyst

description: Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.


polyrrhinia

description: Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.


supernumerary nostril

description: Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.


proboscis lateralis

description: Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.


nasopharyngeal teratoma

description: A teratoma that involves the nasopharynx.


nasal glial heterotopia

description: Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.


nasal ganglioglioma

description: Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.


nasal encephalocele

description: Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.


congenital laryngeal cyst

description: Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.


craniofacial microsomia

description: A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.


glossopalatine ankylosis

description: Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.