Living with Chondroectodermal dysplasia with night blindness
A rare genetic bone condition with short stature, nail and tooth differences, and trouble seeing in dim light.
Understanding Chondroectodermal dysplasia with night blindness
People have proportionate short stature, enlarged curved nails, and fewer teeth than usual (hypodontia). Weak bones with a tendency to fracture, a clubfoot-type deformity with a changed gait, ear infections, and watery eyes from narrow tear ducts are common. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Curved, enlarged fingernails and toenails
- Changes in tooth shape
- Walking changes (gait disturbance)
- Delayed bone maturity
- Watery eyes (epiphora)
- Middle ear infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a specific gene.
Also known as: chondroectodermal dysplasia with night blindness syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chondroectodermal dysplasia with night blindness.
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