Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal dominant, multiple congenital anomalies syndrome characterized by facial dysmorphism (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural deafness, ulnar deviations and contractures of the hand. This disorder is allelic to Waardenburg syndrome, and distinguished by the imaging findings and distinct facial features. Disease data Classification Malformation syndrome Synonyms CDHS CDHS Zespół Sommera, Young, Wee i Frye Craniofacial-hearing loss-hand syndrome Sommer-Young-Wee-Frye syndrome ORPHA code 1529 OMIM code 122880 ICD10 code Q87.0 ICD11 code LD2H.Y *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