Living with Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome
A rare genetic condition with uncombable hair, early cataracts, retina changes, tooth differences, and short fingers.
Understanding Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome
People have uncombable hair and sparse hair, tooth differences, early-onset cataract, changes to the retina, and short hand bones and fingers. Hyperactivity and mild intellectual disability have been reported. It is noticed at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Uncombable hair
- Sparse hair
- Fewer than usual or extra teeth
- Cataract at a young age (juvenile cataract)
- Retina pigment changes
- Short fingers or toes (brachydactyly)
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 eye disease 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
- Eye disease specialists (ophthalmologists); 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 (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: bork syndrome; tricho-retino-dento-digital syndrome; uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome; uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
Patient organizations
- National Foundation for Ectodermal DysplasiasUncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome.
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