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Definition

A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present.

Acronym

KOS

Synonyms

Blepharophimosis-ptosis-intellectual disability syndrome
Blepharophimosis-ptosis-mental retardation syndrome
BPIDS
BPID syndrome

Keywords

Mental retardation

 
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