Goodman syndrome

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ORPHA:65798OMIM:201020Q87.0
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Overview

Goodman syndrome, also known as Acrocephalopolysyndactyly type IV (ACPS IV), is a very rare genetic condition that affects the development of the skull, hands, and feet before birth. The skull fuses too early (a condition called craniosynostosis), which can change the shape of the head and put pressure on the brain. At the same time, children with Goodman syndrome are born with extra fingers or toes (polydactyly) and fingers or toes that are fused together (syndactyly). These features together give the condition its full name, which means 'abnormal head shape with fused and extra digits.' The condition belongs to a group of disorders called acrocephalopolysyndactyly syndromes. Other features can include intellectual disability, low muscle tone, and differences in the face such as widely spaced eyes or a flat nasal bridge. Heart defects have also been reported in some individuals. Treatment focuses on managing each symptom individually. Surgery is often needed to correct skull shape and relieve brain pressure, and additional operations may be done on the hands and feet. There is no cure, but early intervention and a team of specialists can greatly improve quality of life and development for affected children.

Also known as:

Key symptoms:

Abnormally shaped or pointed head due to early skull fusion (craniosynostosis)Extra fingers or toes (polydactyly)Fused fingers or toes (syndactyly)Intellectual disability or developmental delaysLow muscle tone (floppiness in infancy)Widely spaced eyesFlat or broad nasal bridgeCongenital heart defects (in some cases)Short statureDifferences in ear shape or position

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Goodman syndrome.

View clinical trials →

No actively recruiting trials found for Goodman syndrome at this time.

New trials open frequently. Follow this disease to get notified.

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No specialists are currently listed for Goodman syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Goodman syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Goodman syndrome

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific features does my child have, and how severe are they?,Does my child need skull surgery, and if so, when should it happen?,Has a genetic cause been identified, and should our family have genetic testing?,What therapies should my child start, and how soon?,Are there any heart or other organ problems we need to monitor?,What signs should prompt me to seek emergency care?,Are there any specialists or centers with experience in this condition that you would recommend?

Common questions about Goodman syndrome

What is Goodman syndrome?

Goodman syndrome, also known as Acrocephalopolysyndactyly type IV (ACPS IV), is a very rare genetic condition that affects the development of the skull, hands, and feet before birth. The skull fuses too early (a condition called craniosynostosis), which can change the shape of the head and put pressure on the brain. At the same time, children with Goodman syndrome are born with extra fingers or toes (polydactyly) and fingers or toes that are fused together (syndactyly). These features together give the condition its full name, which means 'abnormal head shape with fused and extra digits.' The

How is Goodman syndrome inherited?

Goodman syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Goodman syndrome typically begin?

Typical onset of Goodman syndrome is neonatal. Age of onset can vary across affected individuals.