Overview
Acrocapitofemoral dysplasia (ACFD) is a very rare inherited bone disorder that affects the way the skeleton grows and develops. The name comes from the parts of the body most affected: 'acro' refers to the hands and feet, 'capito' refers to the head of the upper arm bone, and 'femoral' refers to the top of the thigh bone. This condition is caused by changes (mutations) in the IHH gene, which plays an important role in how bones form and grow. People with ACFD are typically much shorter than average (short stature) because the long bones of the arms and legs do not grow to their full length. The bones in the hips and shoulders are often cone-shaped or abnormally formed, which can cause pain and limit movement. The hands and feet may also look shorter and broader than usual. Symptoms are usually noticed in early childhood when growth delays become apparent. There is currently no cure for ACFD. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, pain management, and in some cases orthopedic surgery to address joint problems. A team of specialists including a medical geneticist, orthopedic surgeon, and endocrinologist typically work together to care for people with this condition.
Key symptoms:
Short stature (much shorter than average height)Short arms and legs relative to body sizeShort, broad hands and feetCone-shaped or abnormally formed hip jointsAbnormal shoulder joint developmentHip pain or stiffnessLimited range of motion in the hips and shouldersWaddling or unusual walking patternDelayed bone growth seen on X-raysShortened finger and toe bones
Clinical phenotype terms (21)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Acrocapitofemoral dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Acrocapitofemoral 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 Acrocapitofemoral dysplasia.
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Caregiver Resources
NORD Caregiver Resources
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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 changes were found in my (or my child's) IHH gene, and what do they mean for the future?,How often should we have X-rays or other imaging to monitor bone and joint health?,Is physical therapy recommended, and what type of exercises are safe?,At what point would you recommend considering surgery for hip or shoulder problems?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for this condition?,What signs should prompt us to seek urgent medical attention?
Common questions about Acrocapitofemoral dysplasia
What is Acrocapitofemoral dysplasia?
Acrocapitofemoral dysplasia (ACFD) is a very rare inherited bone disorder that affects the way the skeleton grows and develops. The name comes from the parts of the body most affected: 'acro' refers to the hands and feet, 'capito' refers to the head of the upper arm bone, and 'femoral' refers to the top of the thigh bone. This condition is caused by changes (mutations) in the IHH gene, which plays an important role in how bones form and grow. People with ACFD are typically much shorter than average (short stature) because the long bones of the arms and legs do not grow to their full length. T
How is Acrocapitofemoral dysplasia inherited?
Acrocapitofemoral dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acrocapitofemoral dysplasia typically begin?
Typical onset of Acrocapitofemoral dysplasia is childhood. Age of onset can vary across affected individuals.