de Quervain disease

Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.


denture stomatitis

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Inflammation of the mouth due to denture irritation.


diastolic heart failure

Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.


drug-induced akathisia

An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.


drug-induced dyskinesia

Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)


dry eye syndrome

A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.


dystocia

Slow or difficult obstetric labor or childbirth.


encephalomalacia

Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.


endometrioid stromal sarcoma

A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.


endomyocardial fibrosis

A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.


euthyroid sick syndrome

Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.


extrahepatic cholestasis

Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.


frozen shoulder

A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.


fungal meningitis

Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.


gastric antral vascular ectasia

Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.


gastroparesis

Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.


giant cell reparative granuloma

A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.


heart aneurysm

A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.


Helicobacter pylori infectious disease

Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.


hemopneumothorax

Collection of air and blood in the pleural cavity.


hidrocystoma

A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.


hyperemesis gravidarum

Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.


hypersplenism

Overactive functioning of the spleen, resulting in excessive destruction of blood cells.


hypervitaminosis A

A symptom complex resulting from ingesting excessive amounts of vitamin A.


hypothalamic neoplasm

A primary or metastatic neoplasm that affects the hypothalamus.


inappropriate ADH syndrome

A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.


inflammatory breast carcinoma

An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.


intermediate coronary syndrome

Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.


intermediate uveitis

Inflammation of the pars plana.


intestinal perforation

A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.


intracranial arterial disease

Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


intracranial hypertension

A finding characterized by increased cerebrospinal fluid pressure within the skull.


intracranial hypotension

Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)


intracranial vasospasm

Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).


iritis

Inflammation of the iris.


arthropathy

Any disorder of the joints.


Klinefelter syndrome

A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.


kwashiorkor

A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)


lip cancer

A primary or metastatic malignant neoplasm involving the lip.


lipoid nephrosis

A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.


low tension glaucoma

A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.


lymphangiomyoma

A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.


macular holes

A hole in the macula of the retina.


magnesium deficiency

A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)


malignant hypertension

Severe hypertension that is characterized by rapid onset of extremely high blood pressure.


marasmus

The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.


mastitis

Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.


meconium aspiration syndrome

A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.


mesenchymal chondrosarcoma

A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.


mesothelial neoplasm

A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003


mouth disorder

A disease involving the mouth.


myeloid sarcoma

A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)


neurogenic bowel

Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.


nodular goiter

Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.


nutritional deficiency disease

A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)


obstructive jaundice

A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.


ocular hypertension

Abnormally high intraocular pressure.


malignant superior sulcus neoplasm

A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.


paraphimosis

A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.


parathyroid gland adenoma

A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.


partial motor epilepsy

A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


penile neoplasm

A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.


peptic esophagitis

Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.


periarthritis

Inflammation of the tissues around a joint. (Dorland, 27th ed)


pericoronitis

Inflammation of the gingiva surrounding the crown of a tooth.


peritoneal neoplasm

A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.


phimosis

A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.


pituitary dwarfism

Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.


pneumococcal meningitis

An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)


posterior uveitis

Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.


haemophilus infectious disease

Infections with bacteria of the genus haemophilus.


pulmonary edema

Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).


pulpitis

Inflammation of the dental pulp.


pyelonephritis

An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.


renal artery obstruction

Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).


renal osteodystrophy

Abnormalities of bone mineral metabolism associated with chronic kidney disease.


retinal artery occlusion

An occlusion of the retinal artery.


retinal vasculitis

Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.


retinal vein occlusion

An occlusion of the retinal vein.


retinopathy of prematurity

A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.


rheumatic heart disease

An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.


sebaceous adenocarcinoma

An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.


secondary hyperparathyroidism

Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.


sialadenitis

Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.


skin appendage carcinoma

A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.


smooth muscle tumor

A benign or malignant myomatous neoplasm arising from smooth muscle.


somatostatinoma

A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.


subacute thyroiditis

Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.


suppurative periapical periodontitis

Localized collection of pus in the tissues that enclose the root of a tooth.


systolic heart failure

Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.


tethered spinal cord syndrome

A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.


tonsil cancer

A primary or metastatic malignant neoplasm that affects the tonsil.


tooth disorder

A disease involving the calcareous tooth.


ulcerative proctosigmoiditis

Inflammation of the rectum and the distal portion of the colon.


Ureaplasma urethritis

Infections with bacteria of the genus ureaplasma.


uremia

A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.


ureterolithiasis

The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.


viral meningitis

Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.


vitamin A deficiency

Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


vitreous detachment

Detachment of the vitreous humor from the retina.


vulvovaginitis

An inflammatory pathologic process that affects the vulva and the vagina.


Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD).


rotator cuff syndrome

Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.


acanthosis nigricans

A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.


Achondroplasia

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.


neurofibromatosis type 2

A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.


Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.


restless legs syndrome, susceptibility to, 1


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.


adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


adiposis dolorosa

Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.


pseudohypoparathyroidism type 1A

A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


alcohol dependence

Physical and psychological dependence on alcohol.


Alzheimer disease type 1

Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65.


Alzheimer disease 2

An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.


anal canal carcinoma

A carcinoma that arises from epithelial cells of the anal canal


Angelman syndrome

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


anisocoria

Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.


ankyloglossia

A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.


obstructive sleep apnea syndrome

Cessation of air flow during sleep due to upper airway obstruction.


episodic ataxia type 2

Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.


autoimmune disease

A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).


Machado-Joseph disease

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


gastroesophageal reflux disease

A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.


nevoid basal cell carcinoma syndrome

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.


Behcet disease

A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.


blue rubber bleb nevus

Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.


epidermolytic ichthyosis

A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


progressive familial heart block, type 1A

An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.


Burkitt lymphoma

Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.


breast cancer

A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.


hepatocellular carcinoma

A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.


cardiac rhythm disease

Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.


carpal tunnel syndrome

Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.


leukocyte adhesion deficiency 1

Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.


childhood epilepsy with centrotemporal spikes

A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.


Alagille syndrome

Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.


clubfoot

The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.


aorta coarctation

Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.


familial cold autoinflammatory syndrome 1

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.


hereditary coproporphyria

A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.


Schnyder corneal dystrophy

Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.


idiopathic spontaneous coronary artery dissection

The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.


Cryoglobulinemic vasculitis

Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.


cerebral arteriopathy with subcortical infarcts and leukoencephalopathy


neurohypophyseal diabetes insipidus

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.


maturity-onset diabetes of the young type 2

Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.


Lewy body dementia

A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.


Ehlers-Danlos syndrome, classic type

Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.


Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.


multiple endocrine neoplasia type 1

Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.


epidermoid cysts

The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.


generalized dominant dystrophic epidermolysis bullosa

Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.


epidermolysis bullosa simplex 1C, localized

A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.


esophageal cancer

A primary or metastatic malignant neoplasm involving the esophagus.


hemifacial hypertrophy

Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.


fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.


desmoid tumor

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.


fish eye disease

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.


MALT lymphoma

An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)


fissured tongue

Accentuation of the grooves on the dorsal surface of the tongue.


Tourette syndrome

A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.


Hashimoto thyroiditis

An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.


Kasabach-Merritt syndrome

Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.


autosomal dominant familial periodic fever

A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.


Huntington disease

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.


congenital hydronephrosis

Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.


A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.


hyperlipidemia, familial combined, LPL related

A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins.


hyperlipoproteinemia type V

A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.


hyperreflexia

An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.


essential hypertension, genetic

An instance of essential hypertension that is caused by a modification of the individual's genome.


hypertriglyceridemia 1

A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.


hypochondroplasia

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


hypogonadotropic hypogonadism 7 with or without anosmia

A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.


multiple system atrophy

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.


IgE responsiveness, atopic

Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.


hyper-IgE recurrent infection syndrome 1, autosomal dominant

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.


inclusion body myositis

A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.


intussusception

Telescoping or invagination of a part of the intestine into an adjacent segment.


KBG syndrome

KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.


familial congenital nasolacrimal duct obstruction

No identifiable superior and/or inferior lacrimal punctum.


congenital laryngomalacia

Increased collapsibility of the larynx.


uterine corpus leiomyoma

A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


hereditary leiomyomatosis and renal cell cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.


acute monocytic leukemia

Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).


lichen sclerosus et atrophicus

A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.


multiple symmetric lipomatosis

Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).


systemic lupus erythematosus

An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.


primary intestinal lymphangiectasia

Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.


Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.


myelodysplastic syndrome associated with isolated del(5q)

A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)


cystoid macular edema

An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.


Marfan syndrome

A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.


mastocytosis

A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.


medulloblastoma

A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.


melanoma, cutaneous malignant, susceptibility to, 2

Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)


Meniere disease

A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.


motion sickness

A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.


facioscapulohumeral muscular dystrophy 1

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.


facioscapulohumeral muscular dystrophy 2

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


tropical spastic paraparesis

Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.


juvenile dermatomyositis

Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.


myotonic dystrophy type 1

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.


narcolepsy 1

A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.


schwannomatosis

The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.


multiple endocrine neoplasia type 2B

Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.


cyclic hematopoiesis

A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.


familial multiple nevi flammei

A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.


ocular cicatricial pemphigoid

Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.


obsessive-compulsive disorder

A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.


oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.


spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.


isolated optic nerve hypoplasia

A congenital abnormality characterized by the underdevelopment of both optic nerves.


osteogenesis imperfecta type 1

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.


osteogenesis imperfecta type 4

Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).


ovarian cancer

A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.


nephrolithiasis

The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.


paramyotonia congenita of Von Eulenburg

Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).


late-onset Parkinson disease

A Parkinson disease that begins after around the age of 50.


autosomal dominant Parkinson disease 1

An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the SNCA gene, encoding alpha-synuclein. Mutation(s) in the SNCA gene are responsible for PARK4 and Lewy body dementia, and have overlapping phenotypes.


chondromalacia patellae

Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.


pectus excavatum

A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.


Hailey-Hailey disease

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).


pemphigus vulgaris

Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).


Andersen-Tawil syndrome

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.


hypokalemic periodic paralysis

Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.


hyperkalemic periodic paralysis

Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.


pernicious anemia

Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.


Peyronie disease

A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.


pheochromocytoma

Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.


multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.


Pick disease

A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.


pilonidal sinus

A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


familial pityriasis rubra pilaris

A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.


platelet aggregation, spontaneous

Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.


familial spontaneous pneumothorax

Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.


Kindler syndrome

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.


polycystic kidney disease 1

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.


polydactyly-myopia syndrome

Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.


polyostotic fibrous dysplasia

Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.


stomach polyp

A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).


Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.


acute intermittent porphyria

Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.


variegate porphyria

Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.


Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.


Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).


pelvic organ prolapse, susceptibility to


prostate cancer

A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.


Proteus syndrome

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.


exfoliation syndrome

An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.


familial pterygium of the conjunctiva

Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.


pulmonary edema of mountaineers, susceptibility to


pulmonary hemosiderosis

A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.


Raynaud disease

An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.


retinal detachment

An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.


retinoblastoma

A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.


rheumatoid arthritis

A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.


Silver-Russell syndrome

Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.


pleomorphic adenoma

A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).


intestinal schistosomiasis

An intestinal infection that is caused by Schistosoma japonicum.


seborrheic keratosis

A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.


septooptic dysplasia

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.


small cell lung carcinoma

Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.


Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.


spina bifida

A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.


spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.


spinocerebellar ataxia type 2

A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.


spondylolisthesis

A condition in which there is forward displacement of a vertebral bone over the on below it.


spondyloepimetaphyseal dysplasia, Strudwick type

A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


spondylosis, cervical

Arthritis of the cervical spine.


polycystic ovary syndrome

A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.


stiff-person syndrome

Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.


cryohydrocytosis

A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.


platelet storage pool deficiency

Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.


Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.


teeth, supernumerary

An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.


temporal arteritis

A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.


tetralogy of fallot

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.


autoimmune thrombocytopenic purpura

An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.


thrombophilia due to thrombin defect

The formation of a blood clot (thrombus) in the lumen of a vein.


thrombophilia due to activated protein C resistance

A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.


DiGeorge syndrome

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.


nicotine dependence

Physical and psychological dependence on nicotine.


inherited torticollis

A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.


HELLP syndrome

A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.


trigeminal neuralgia

Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.


trigger thumb

A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).


Down syndrome

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.


tuberous sclerosis 1

Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).


inflammatory bowel disease 11

An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.


ureter cancer

A malignant neoplasm involving the ureter


Muckle-Wells syndrome

An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.


velocardiofacial syndrome

A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.


autosomal dominant hypophosphatemic rickets

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.


vitiligo

Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.


volvulus of midgut

A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.


von Hippel-Lindau disease

A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.


Williams syndrome

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)


ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.


achalasia

A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.


congenital isolated adrenocorticotropic hormone deficiency

A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.


medium chain acyl-CoA dehydrogenase deficiency

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.


short chain acyl-CoA dehydrogenase deficiency

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.


very long chain acyl-CoA dehydrogenase deficiency

An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


adrenocortical carcinoma, hereditary

An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.


congenital afibrinogenemia

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


Alexander disease

Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.


alkaptonuria

A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


mitochondrial DNA depletion syndrome 4a

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


Leber congenital amaurosis 1

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.


neuronal ceroid lipofuscinosis 2

A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


IRIDA syndrome

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


hyperargininemia

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


argininosuccinic aciduria

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.


progressive pseudorheumatoid arthropathy of childhood

Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.


aspartylglucosaminuria

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


asthma, nasal polyps, and aspirin intolerance


ataxia telangiectasia

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.


MHC class II deficiency

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.


immunodeficiency 27A

A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species.


sitosterolemia

A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.


biliary atresia

A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.


Williams-Campbell syndrome

A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.


thromboangiitis obliterans

A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.


progressive bulbar palsy

Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


progressive familial intrahepatic cholestasis type 1

PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.


lung cancer

A malignant neoplasm involving the lung.


PMM2-congenital disorder of glycosylation

The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.


systemic primary carnitine deficiency disease

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.


A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.


cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.


Chediak-Higashi syndrome

ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.


chondrosarcoma

A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.


chordoma

Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.


hypoplasminogenemia

A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.


band keratopathy

The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.


congenital hereditary endothelial dystrophy of cornea

A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.


macular corneal dystrophy

Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


apparent mineralocorticoid excess

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.


Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.


cryptorchidism

The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.


Cushing syndrome due to macronodular adrenal hyperplasia

A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


Cushing disease due to pituitary adenoma

Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.


cystic disease of lung

The presence of multiple lung cysts.


cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


cystinuria

Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


type 1 diabetes mellitus 1

An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.


diastematomyelia

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.


orthostatic hypotension 1

A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


Riley-Day syndrome

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


cerebellar ataxia, intellectual disability, and dysequilibrium

A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.


enterocolitis

An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.


protein-losing enteropathy

Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.


eosinophilic fasciitis

Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.


immunodeficiency 32B

A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.


Fanconi anemia complementation group A

Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.


brittle cornea syndrome

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.