About: Kaufman oculocerebrofacial syndrome

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Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate. It was characterized in 1971; eight cases had been identified as of 1995.

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  • Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate. It was characterized in 1971; eight cases had been identified as of 1995. (en)
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  • Kaufman oculocerebrofacial syndrome has an autosomal recessive pattern of inheritance. (en)
dbp:causes
  • Mutation in the UBE3B gene (en)
dbp:diagnosis
  • Growth assessment, Thyroid function evaluation (en)
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  • Q87.0 (en)
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  • 537013.0
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  • Kaufman oculocerebrofacial syndrome (en)
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  • 244450 (xsd:integer)
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  • 2707 (xsd:integer)
dbp:symptoms
  • Arachnodactyly (en)
dbp:synonyms
  • Blepharophimosis-ptosis-intellectual disability syndrome (en)
dbp:treatment
  • Thyroid hormone replacement, Speech therapy (en)
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  • Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate. It was characterized in 1971; eight cases had been identified as of 1995. (en)
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  • Kaufman oculocerebrofacial syndrome (en)
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  • Kaufman oculocerebrofacial syndrome (en)
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