Living with Congenital heart defect-round face-developmental delay syndrome
A very rare syndrome with a heart difference, a round face, short stature and intellectual disability.
Understanding Congenital heart defect-round face-developmental delay syndrome
It includes congenital heart disease, a round face with a flat nose bridge and small mouth, short stature, relatively dark skin, typical fingerprint differences and intellectual disability. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences present from birth
- Round face with flat nose
- Small mouth
- Short stature
- Darker skin
- Intellectual disability
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 and genetic 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)
- 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 doesn't name a gene here. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: congenital heart defect with round face and developmental delay syndrome; round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development; sonoda 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 Congenital heart defect-round face-developmental delay syndrome.
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