Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome Zespół Pfeiffera i Kapferera Pfeiffer-Kapferer syndrome ORPHA code 3224 OMIM code - ICD10 code Q87.8 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