Living with Thoracic dysplasia-hydrocephalus syndrome
A very rare bone condition with a narrow chest, short ribs, extra fluid in the brain, and developmental delay.
Understanding Thoracic dysplasia-hydrocephalus syndrome
People also have mild shortening of the upper arms and legs and developmental delay. It starts during pregnancy. GARD says there have been no further descriptions in the medical literature since 1987.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrow chest
- Extra fluid in the brain (communicating hydrocephalus)
- Global developmental delay
- Intellectual disability
- Seizures
- Low muscle tone (hypotonia)
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, genetic specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Hydrocephalus Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Hydrocephalus Association
- 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 Hydrocephalus Association
- 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 (variants) cause this condition, but it doesn't name a specific gene.
Also known as: thoracic dysplasia and hydrocephalus syndrome
Patient organizations
- Hydrocephalus AssociationThoracic dysplasia-hydrocephalus syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Thoracic dysplasia-hydrocephalus syndrome.
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