Coffin-Siris syndrome (DOID:1925)
Alliance: disease page
Synonyms: Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Short Stature-Onychodysplasia.
Alt IDs: MESH:C536436, NCI:C35321, OMIM:PS135900, ORDO:1465, UMLS_CUI:C0265338
Definition: An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.