Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

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, Pfeiffer Kapferer syndrome, sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5, short stature, intellectual disability and multiple dysmorphisms, short stature, mental retardation and multiple dysmorphisms

0 clinical trials for this condition and its sub-types, 0 tagged with Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome itself.