DONSON-related microcephaly-short stature-limb abnormalities spectrum

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

572761

OMIM code

ICD10 code

ICD11 code

*Soruce