Chondroectodermal dysplasia with night blindness

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Chondroectodermal dysplasia with night blindness?

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