Living with Hydrocephaly-tall stature-joint laxity syndrome
A very rare genetic condition with extra fluid in the brain, tall height, loose joints, and a curved spine.
Understanding Hydrocephaly-tall stature-joint laxity syndrome
It involves hydrocephalus (extra fluid in the brain) starting in infancy, tall height, loose joints (joint laxity), and a forward curve of the middle and lower spine (thoracolumbar kyphosis). It has not been described in the medical literature since 1989.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fluid buildup in the brain (hydrocephalus)
- Tall height
- Loose, double-jointed joints
- Curved spine (kyphosis, scoliosis)
- Long, slender fingers (arachnodactyly)
- Shoulder dislocation
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: daish hardman lamont syndrome; daish-hardman-lamont syndrome; hydrocephalus, tall stature, joint laxity and kyphoscoliosis; hydrocephalus, tall stature, joint laxity syndrome; hydrocephaly, tall stature, joint laxity 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 Hydrocephaly-tall stature-joint laxity syndrome.
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