Chondroectodermal dysplasia with night blindness

Orpha code: 319195OMIM code:

Definition

Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.

Disease data
Classification

Disease

ORPHA code
319195
OMIM code
-
ICD10 code
Q77.6
ICD11 code
-

No additional description.

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