Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Disease data Classification Malformation syndrome Synonyms Chitty-Hall-Baraitser syndrome Zespół Chitty, Halla i Baraitsera Hearing loss-epiphyseal dysplasia-short stature syndrome ORPHA code 3218 OMIM code 601351 ICD10 code Q87.5 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