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).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Pfeiffer Kapferer syndrome
related
Pfeiffer-Kapferer syndrome
exact
sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5
related
short stature, intellectual disability and multiple dysmorphisms
related
short stature, mental retardation and multiple dysmorphisms
related