Overview
Angel-shaped phalango-epiphyseal dysplasia, often shortened to ASPED, is a very rare inherited bone disorder that mainly affects the growth plates and small bones of the fingers and toes. The name comes from the distinctive 'angel-wing' shape that the middle finger bones (called the middle phalanges) take on when seen on X-ray. This unusual shape happens because the growth plates at both ends of these small bones develop abnormally during childhood. ASPED belongs to a group of conditions called skeletal dysplasias, meaning the skeleton does not form or grow in the typical way. People with ASPED usually have short, stubby fingers and toes, and the joints in the hands and feet may look different from usual. Some individuals also have delayed bone age, meaning their bones mature more slowly than expected for their age. Hip problems, including a condition called hip dysplasia, have also been reported in some patients. Because ASPED is so rare, the full range of symptoms is still being understood. Most people with ASPED do not have intellectual disability and can live full, active lives. Treatment focuses on managing symptoms, monitoring bone and joint health, and addressing any complications as they arise. There is no cure at this time, but regular follow-up with a specialist can help manage the condition effectively.
Also known as:
Key symptoms:
Short, stubby fingers and toesAbnormally shaped middle finger bones (angel-wing appearance on X-ray)Delayed bone maturation (bones develop more slowly than usual)Hip joint problems or hip dysplasiaShort stature in some individualsJoint stiffness or limited movement in the fingersBroad or widened fingertipsAbnormal growth plates in the hands and feet
Clinical phenotype terms (11)— 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 Angel-shaped phalango-epiphyseal dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Angel-shaped phalango-epiphyseal dysplasia.
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 Angel-shaped phalango-epiphyseal dysplasia.
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 X-rays or other tests do you recommend to fully assess my (or my child's) bone health right now?,Should other family members be tested for ASPED, and how is it inherited in our family?,What signs of hip problems should I watch for, and how often should the hips be monitored?,Are there any physical activities or sports that should be avoided or encouraged?,Would physical therapy or occupational therapy be helpful, and what should we focus on?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook, and what complications are most important to watch for as my child grows?
Common questions about Angel-shaped phalango-epiphyseal dysplasia
What is Angel-shaped phalango-epiphyseal dysplasia?
Angel-shaped phalango-epiphyseal dysplasia, often shortened to ASPED, is a very rare inherited bone disorder that mainly affects the growth plates and small bones of the fingers and toes. The name comes from the distinctive 'angel-wing' shape that the middle finger bones (called the middle phalanges) take on when seen on X-ray. This unusual shape happens because the growth plates at both ends of these small bones develop abnormally during childhood. ASPED belongs to a group of conditions called skeletal dysplasias, meaning the skeleton does not form or grow in the typical way. People with ASP
How is Angel-shaped phalango-epiphyseal dysplasia inherited?
Angel-shaped phalango-epiphyseal dysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Angel-shaped phalango-epiphyseal dysplasia typically begin?
Typical onset of Angel-shaped phalango-epiphyseal dysplasia is childhood. Age of onset can vary across affected individuals.