Living with Brain malformation-congenital heart disease-postaxial polydactyly syndrome
A rare genetic syndrome with brain, heart, and kidney differences, extra little fingers, and severe developmental delay.
Understanding Brain malformation-congenital heart disease-postaxial polydactyly syndrome
It includes slow growth before birth, brain differences, heart and kidney differences, and an extra little finger (postaxial polydactyly). Hair may be brittle with balding at the temples. Facial features include a flat nasal bridge and long, smooth philtrum. Severe developmental delay and slow growth after birth have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe delays in development
- Heart wall openings (septal defects)
- Extra little finger
- Low muscle tone
- Brittle hair and hair loss
- 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, genetic specialists and heart and blood vessel 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); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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 cause this condition. GARD doesn't name a specific gene yet.
Also known as: brain malformation, congenital heart disease, postaxial polydactyly syndrome; goossens devriendt syndrome; goossens-devriendt 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 Brain malformation-congenital heart disease-postaxial polydactyly syndrome.
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