Otoonychoperoneal syndrome

Orpha code: 2793OMIM code: 259780

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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