Chondroectodermal dysplasia with night blindness

MONDO:0017869

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.

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↑ Eye disorder (3079) ↑ Skeletal dysplasia (663) ↑ Ectodermal dysplasia syndrome (45)

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