label: DONSON-related microcephaly-short stature-limb abnormalities spectrum
label_lc: donson-related microcephaly-short stature-limb abnormalities spectrum
description: "A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe."