Overview
Exostoses-anetodermia-brachydactyly type E syndrome is an extremely rare genetic condition that affects multiple body systems. The syndrome combines three main features: exostoses (bony growths or bumps that develop on the surface of bones, especially near joints), anetodermia (areas of loose, wrinkled, or sac-like skin caused by loss of the elastic tissue in the skin), and brachydactyly type E (unusually short fingers and toes, particularly affecting the metacarpal and metatarsal bones in the hands and feet). Because this condition involves bones, skin, and skeletal development, it is considered a multi-system disorder. The syndrome was described in only a very small number of families in the medical literature, making it one of the rarest known genetic conditions. Affected individuals may notice bony lumps near their joints during childhood or adolescence, patches of soft or baggy skin, and noticeably short hands or feet. The bony growths can sometimes cause discomfort, limit joint movement, or press on nearby nerves. The skin changes are usually painless but can be cosmetically concerning. There is currently no cure for this syndrome. Treatment is focused on managing symptoms. Surgical removal of exostoses may be needed if they cause pain or functional problems. Dermatological care can help monitor the skin changes. Orthopedic follow-up is important for the skeletal abnormalities. Because so few cases have been reported, the full range of possible symptoms and the best treatment approaches are still being understood.
Key symptoms:
Bony bumps or growths near joints (exostoses)Loose, wrinkled, or baggy patches of skin (anetodermia)Unusually short fingersUnusually short toesShort hands or feetJoint stiffness or limited range of motionPain or discomfort near bony growthsCosmetically noticeable skin changesPossible nerve compression from bony growthsShort stature of certain bones in hands and feet
Clinical phenotype terms (5)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Exostoses-anetodermia-brachydactyly type E syndrome.
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Specialists
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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 Exostoses-anetodermia-brachydactyly type E syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What monitoring schedule do you recommend for the bony growths?,Are there any signs I should watch for that would mean a bony growth needs to be removed?,Is genetic testing available that could help confirm the diagnosis or identify the cause?,What can be done to manage or improve the skin changes?,Will the short fingers or toes affect my child's hand or foot function over time?,Are there any activities my child should avoid to prevent injury to the bony growths?,Should other family members be evaluated for this condition?
Common questions about Exostoses-anetodermia-brachydactyly type E syndrome
What is Exostoses-anetodermia-brachydactyly type E syndrome?
Exostoses-anetodermia-brachydactyly type E syndrome is an extremely rare genetic condition that affects multiple body systems. The syndrome combines three main features: exostoses (bony growths or bumps that develop on the surface of bones, especially near joints), anetodermia (areas of loose, wrinkled, or sac-like skin caused by loss of the elastic tissue in the skin), and brachydactyly type E (unusually short fingers and toes, particularly affecting the metacarpal and metatarsal bones in the hands and feet). Because this condition involves bones, skin, and skeletal development, it is conside
How is Exostoses-anetodermia-brachydactyly type E syndrome inherited?
Exostoses-anetodermia-brachydactyly type E syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Exostoses-anetodermia-brachydactyly type E syndrome typically begin?
Typical onset of Exostoses-anetodermia-brachydactyly type E syndrome is childhood. Age of onset can vary across affected individuals.