Living with Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
A rare genetic condition with developmental delay, low muscle tone, facial differences, heart defects, and hip and spine differences.
Understanding Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
People have global developmental delay, intellectual disability, and low muscle tone. They have distinct features of the head and face, heart defects, and bone differences such as hip dysplasia and scoliosis. A high pain tolerance and urinary or genital differences have also been reported. Brain imaging may show a thin corpus callosum or white matter changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Heart defects
- Cleft palate
- Early closing of skull joints (craniosynostosis)
- Small head (microcephaly)
- Acid reflux and constipation
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 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
GARD says changes in genes cause this condition. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies 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 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome.
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