Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Orpha code: 3224OMIM code:

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

No additional description.

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