Oculocerebrofacial syndrome, Kaufman type

What is Oculocerebrofacial syndrome, Kaufman type?

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, <I>etc</I>. An autosomal recessive mode of inheritance seems most likely.

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
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