Otoonychoperoneal syndrome

Orpha code: 2793OMIM code: 259780

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.

Disease data
Classification

Malformation syndrome

ORPHA code
2793
OMIM code
259780
ICD10 code
Q87.5
ICD11 code
LD27.4

No additional description.

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