Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder. It is characterized by severe intellectual disability, brachycephaly, upslanting palpebral fissures, eye abnormalities and a highly arched palate. The syndrome was characterized in 1971, and eight cases had been identified as of 1995. The true number of cases is still disputed, with published sources giving figures that range from 14 to 31. This entry records how the condition is classified and described, and is not medical advice.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. World Health Organization ICD-10: ICD-10 Version:2019 - Q80-Q89
World Health Organization ICD-10Category Q87.0Quote, Category Q87.0
Q87.0 Congenital malformation syndromes predominantly
2. Kaufman oculocerebrofacial syndrome (Wikipedia)
Lead paragraph
It was characterized in 1971
Lead paragraph [causative-agent-category]
extremely rare autosomal recessive congenital disorder
Lead: disease category
Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe intellectual disability, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.
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