Living with X-linked dominant chondrodysplasia, Chassaing-Lacombe type
A rare genetic bone condition in males with short limbs, slow growth before birth, extra brain fluid, and distinct facial features.
Understanding X-linked dominant chondrodysplasia, Chassaing-Lacombe type
GARD describes abnormal cartilage and bone growth, slow growth before birth, extra fluid in the brain (hydrocephalus), and distinct facial features. Signs begin in the newborn period or infancy. Mild intellectual disability is listed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Slow growth before birth
- Short upper arms and thighs
- Extra fluid in the brain (hydrocephalus)
- Mild intellectual disability
- Small eyes (microphthalmia)
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in HDAC6 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); Brain and nervous system specialists (neurologists); 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
This condition is caused by changes in the HDAC6 gene and follows X-linked dominant inheritance.
Also known as: chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia; chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, x-linked dominant; x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia 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 X-linked dominant chondrodysplasia, Chassaing-Lacombe type.
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