Oculo-auriculo-vertebral spectrum

Orpha code: 141132OMIM code:

Definition

A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.

Disease data
Classification

Malformation syndrome

Synonyms
OAV spectrum
Jednostronna lub obustronna i asymetryczna dysplazja uszno-żuchwowa
Spektrum OAV
Oculoauriculovertebral spectrum
ORPHA code
141132
OMIM code
-
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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