Branchio-oculo-facial syndrome

Orpha code: 1297OMIM code: 113620

Definition

A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.

Disease data
Classification

Malformation syndrome

Synonyms
BOFS
BOFS
ORPHA code
1297
OMIM code
113620
ICD10 code
Q18.8
ICD11 code
LD2F.1Y

No additional description.

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