Okihiro syndrome

Orpha code: 93293OMIM code: 607323

Definition

A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.

Disease data
Classification

Malformation syndrome

Synonyms
Duane-radial ray syndrome
Zespół anomalii Duana i kości piszczelowej
ORPHA code
93293
OMIM code
607323
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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