BOR syndrome

Orpha code: 107OMIM code: 610896

Definition

A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

Disease data
Classification

Malformation syndrome

Synonyms
Branchiootorenal syndrome
Zespół skrzelowo-uszno-nerkowy
Zespół BOR
Branchiootorenal spectrum disorder
Melnick-Fraser syndrome
ORPHA code
107
OMIM code
610896
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl