Progeroid syndrome, Petty type

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ORPHA:2963OMIM:612289E34.8
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Overview

Progeroid syndrome, Petty type, is an extremely rare genetic condition that causes features of premature aging (progeria) along with problems affecting the bones, joints, and connective tissues. This condition was first described by Dr. Petty and colleagues, and only a handful of cases have been reported in the medical literature. People with this syndrome may show signs of accelerated aging such as thin skin, loss of fat under the skin, and a distinctive facial appearance. They may also have joint problems including joint contractures (stiffness that limits movement), short stature, and skeletal abnormalities. Some individuals may develop problems with their eyes, such as cataracts, and may have thin or sparse hair. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on treating individual symptoms as they arise. This may include physical therapy for joint problems, orthopedic care for bone issues, eye care for vision problems, and regular monitoring by multiple specialists. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk. The rarity of this condition means that much remains unknown about its full spectrum of symptoms and long-term outlook, and patients benefit from being followed at centers experienced with progeroid syndromes.

Also known as:

Key symptoms:

Premature aging appearanceShort stature or growth delayJoint stiffness or contracturesThin or aged-looking skinLoss of fat under the skinSparse or thin hairDistinctive facial featuresSkeletal abnormalitiesCataracts or other eye problemsWide or open fontanelles in infancyDelayed closure of skull bonesWrinkled skinSmall jaw (micrognathia)Fragile or easily damaged skin

Clinical phenotype terms (28)— hover any for plain English
Brittle hairHP:0002299Reduced subcutaneous adipose tissueHP:0003758Decreased skull ossificationHP:0004331
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 Progeroid syndrome, Petty type.

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No actively recruiting trials found for Progeroid syndrome, Petty type at this time.

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No specialists are currently listed for Progeroid syndrome, Petty type.

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 Progeroid syndrome, Petty type.

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Community

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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 symptoms should I watch for as my child grows?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,What therapies can help maintain joint mobility and prevent contractures?,How often should my child have eye exams and bone health assessments?,Are there any clinical trials or research studies we could participate in?,What is the expected long-term outlook for someone with this condition?,Can you connect us with other families or support groups for progeroid syndromes?

Common questions about Progeroid syndrome, Petty type

What is Progeroid syndrome, Petty type?

Progeroid syndrome, Petty type, is an extremely rare genetic condition that causes features of premature aging (progeria) along with problems affecting the bones, joints, and connective tissues. This condition was first described by Dr. Petty and colleagues, and only a handful of cases have been reported in the medical literature. People with this syndrome may show signs of accelerated aging such as thin skin, loss of fat under the skin, and a distinctive facial appearance. They may also have joint problems including joint contractures (stiffness that limits movement), short stature, and skele

How is Progeroid syndrome, Petty type inherited?

Progeroid syndrome, Petty type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Progeroid syndrome, Petty type typically begin?

Typical onset of Progeroid syndrome, Petty type is neonatal. Age of onset can vary across affected individuals.