Branchio-oculo-facial syndrome, abbreviated BOFS, is a rare autosomal dominant disorder that arises from a mutation in the TFAP2A gene. It begins to affect a child's development before birth. Recognised features include skin abnormalities on the neck, deformities of the ears and eyes, and distinctive facial features such as a cleft lip. Affected children also show slow growth and intellectual disability, and the hair may turn gray prematurely.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Branchio-oculo-facial syndrome (Wikipedia)
Lead section
arises from a mutation in the TFAP2A gene
Lead section [condition-kind]
starts to affect a child's development before birth
Lead section [disease-category]
rare autosomal dominant disorder
View the Source2. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:1297Quote, ORPHA:1297
Point prevalence Class only <1 / 1 000 000
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