Living with Chondrodysplasia-pseudohermaphroditism syndrome
A very rare genetic condition that affects bone growth, sexual development, the eyes, and the brain.
Understanding Chondrodysplasia-pseudohermaphroditism syndrome
People have normal-looking external female genitalia but gonads that did not develop, with no puberty. They also have severe short stature with bone growth differences, including a bell-shaped chest and very short arms and legs. Other features include eye differences, a small head with a cerebellar difference, mild intellectual disability, and certain facial features. GARD lists onset during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Small head size (microcephaly)
- Intellectual disability
- Narrow chest
- Eye differences, such as crossed eyes
- Large ears
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, eye disease specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in HHAT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 the HHAT gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: chondrodysplasia pseudohermaphrodism syndrome; chondrodysplasia pseudohermaphroditism syndrome; chondrodysplasia with disorder of sex development syndrome; chondrodysplasia-disorder of sex development syndrome; nivelon nivelon mabille syndrome; nivelon-nivelon-mabille 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 Chondrodysplasia-pseudohermaphroditism syndrome.
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