OMIM 244450 | ||
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Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, eye abnormalities, highly arched palate, preauricular skin tags and small mandible.
It was characterized in 1971.
Eight cases had been identified as of 1995.
Genetics
It appears to be due to a mutation in the E3 ubiquitin protein ligase (UBE3B).
References
Kaufman oculocerebrofacial syndrome Wikipedia(Text) CC BY-SA