Living with Acrocephalosyndactyly type V
A rare condition with a pointed head shape, hand and foot differences, obesity, and heart disease, but no intellectual disability.
Understanding Acrocephalosyndactyly type V
It is a rare form of syndromic trigonocephaly. Features include a broad, flat nasal bridge, narrow upper jaw, obesity, and congenital heart disease. Hand and foot differences include extra, short, webbed, or curved fingers and toes. GARD says it is considered a variant of Carpenter syndrome without intellectual disability.
Signs & symptoms
GARD doesn't list a symptom list for this condition yet. The summary describes these features:
- Pointed head shape (acrocephaly)
- Broad, flat nasal bridge
- Extra, short, or webbed fingers and toes
- Obesity
- Heart defect present from birth
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 describe a cause for this condition yet. It is considered a variant of Carpenter syndrome without intellectual disability.
Also known as: acps 4; acps iv; acps4; acrocephalopolysyndactyly type 4; acrocephalopolysyndactyly type iv; goodman 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 Acrocephalosyndactyly type V.
Explore research for Acrocephalosyndactyly type V
Explore actively recruiting Acrocephalosyndactyly type V studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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