Living with Congenital hypotrichosis with juvenile macular dystrophy
A very rare inherited condition with sparse, short hair from birth, followed by worsening vision from macular damage.
Understanding Congenital hypotrichosis with juvenile macular dystrophy
The macula is the center of the retina, and its damage affects sharp central vision. It is seen in newborns and infants. GARD's summary says the macular degeneration leads to blindness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse scalp hair
- Fine, short or brittle hair
- Flattened and twisted hair (pili torti)
- Macular degeneration
- Vision loss
- Short stature
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.
- 3Consider genetic testing
Changes in CDH3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
Changes in the CDH3 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: hjmd; hypotrichosis with cone-rod dystrophy; hypotrichosis with juvenile macular degeneration; hypotrichosis with juvenile macular dystrophy
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 Congenital hypotrichosis with juvenile macular dystrophy.
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