Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Definition
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized 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).
Also known as Pfeiffer-Kapferer syndrome — per MONDO