Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Disease data Klasyfikacja Malformation syndrome Synonimy Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome Zespół Pfeiffera i Kapferera Pfeiffer-Kapferer syndrome Kod ORPHA 3224 Kod OMIM - Kod ICD10 Q87.8 Kod ICD11 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