Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991. Disease data Klasyfikacja Malformation syndrome Synonimy Stoll-Géraudel-Chauvin syndrome Zespół Stolla, Géraudela i Chauvina Kod ORPHA 3074 Kod OMIM - Kod ICD10 Q87.8 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl