Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

What is Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome?

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).

Other condition names

  • Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome
  • Pfeiffer-Kapferer syndrome

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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