Living with Cataract-deafness-hypogonadism syndrome
An extremely rare condition with cataracts at birth, hearing loss, and low activity of the reproductive glands.
Understanding Cataract-deafness-hypogonadism syndrome
It involves cataracts present at birth, hearing loss from the inner ear, low activity of the gonads (hypogonadism), mild intellectual disability, extra body hair, and short stature. GARD notes there have been no further descriptions in the medical literature since 1995.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataract present at birth
- Hearing loss (sensorineural)
- Low activity of the gonads (hypogonadism)
- Mild intellectual disability
- Extra body hair (hypertrichosis)
- 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 brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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: cataract-hearing loss-hypogonadism syndrome; cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature; congenital cataract with deafness and hypogonadism syndrome; schaap taylor baraitser syndrome; schaap-taylor-baraitser syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cataract-deafness-hypogonadism syndrome.
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