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 April 2026
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Chondroectodermal dysplasia with night blindness?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
Together, we enrich the lives of people affected by ectodermal dysplasias by fostering community, providing education and support, and driving advocacy and groundbreaking research—creating a brighter future for all.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.
