Living with Cataract-hypertrichosis-intellectual disability syndrome
A rare condition with cataracts at birth, extra body hair, and intellectual disability.
Understanding Cataract-hypertrichosis-intellectual disability syndrome
Other features can include small teeth, a flat nasal bridge, a funnel chest, a low hairline at the back of the neck, and a palate that is shaped differently. It begins in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataract present at birth
- Extra hair over the body
- Intellectual disability
- Small teeth (microdontia)
- Funnel chest (pectus excavatum)
- Low hairline at the back of the neck
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 brain and nervous system specialists, 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
- Brain and nervous system specialists (neurologists); 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 cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: cahmr (cataract, hypertrichosis, mental retardation) syndrome; cahmr syndrome; congenital cataract with hypertrichosis and intellectual disability 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 Cataract-hypertrichosis-intellectual disability syndrome.
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