/deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Rare Disease

MONDO:0017920

Also Known As

Pfeiffer-Kapferer syndromePfeiffer Kapferer syndromesensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5short stature, intellectual disability and multiple dysmorphismsshort stature, mental retardation and multiple dysmorphisms

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).