Overview
Arthrogryposis-ectodermal dysplasia syndrome is an extremely rare genetic condition that combines two major groups of problems: joint contractures (arthrogryposis) and abnormalities of structures that develop from the outer layer of the embryo, such as skin, hair, nails, teeth, and sweat glands (ectodermal dysplasia). Babies born with this condition typically have stiff, curved joints in their arms and legs that limit movement. They may also have thin or sparse hair, abnormal or missing teeth, dry skin, and reduced ability to sweat. Some affected individuals may also have other features such as growth delays or distinctive facial features. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and their severity can vary between individuals. The condition is present from birth, and the joint problems are usually noticed right away. Treatment is supportive and focuses on managing the individual symptoms. Physical therapy and occupational therapy are important for improving joint mobility and function. Dental care is needed for tooth abnormalities, and skin care may be required for dryness. Orthopedic interventions, including bracing or surgery, may be considered for severe joint contractures. There is currently no cure for this condition, and management is lifelong and multidisciplinary.
Also known as:
Key symptoms:
Stiff or locked joints at birth (joint contractures)Limited range of motion in arms and legsThin or sparse hairAbnormal or missing teethDry skinReduced or absent sweatingBrittle or abnormal nailsShort stature or growth delaysDistinctive facial featuresDifficulty with fine motor skillsMuscle weakness or underdevelopment
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Arthrogryposis-ectodermal dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Arthrogryposis-ectodermal dysplasia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Arthrogryposis-ectodermal dysplasia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 is the specific genetic cause in our case, and should we pursue whole exome sequencing?,What therapies should we start right away to improve joint mobility?,How can we safely manage the risk of overheating if sweating is reduced?,What dental treatments will be needed as my child grows?,Are there any clinical trials or research studies we could participate in?,What is the chance of having another child with this condition?,What adaptive equipment or school accommodations should we consider?
Common questions about Arthrogryposis-ectodermal dysplasia syndrome
What is Arthrogryposis-ectodermal dysplasia syndrome?
Arthrogryposis-ectodermal dysplasia syndrome is an extremely rare genetic condition that combines two major groups of problems: joint contractures (arthrogryposis) and abnormalities of structures that develop from the outer layer of the embryo, such as skin, hair, nails, teeth, and sweat glands (ectodermal dysplasia). Babies born with this condition typically have stiff, curved joints in their arms and legs that limit movement. They may also have thin or sparse hair, abnormal or missing teeth, dry skin, and reduced ability to sweat. Some affected individuals may also have other features such a
How is Arthrogryposis-ectodermal dysplasia syndrome inherited?
Arthrogryposis-ectodermal dysplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Arthrogryposis-ectodermal dysplasia syndrome typically begin?
Typical onset of Arthrogryposis-ectodermal dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.