Overview
Ulna hypoplasia-intellectual disability syndrome is a very rare condition that affects both the bones of the forearm and brain development. 'Ulna hypoplasia' means that the ulna — one of the two bones in the forearm — is smaller than normal or underdeveloped. This can affect the shape and movement of the arm and hand. Along with this bone difference, people with this syndrome also have intellectual disability, meaning they may have challenges with learning, thinking, and daily problem-solving compared to others their age. This syndrome is present from birth, and the physical differences in the arm are usually noticed right away. The degree of intellectual disability can vary from mild to more significant. Some individuals may also have other physical features, such as differences in the fingers or other parts of the skeleton. Because this condition is so rare, there is no cure, and treatment focuses on supporting each person's specific needs. This may include physical therapy to improve arm and hand function, educational support for learning challenges, and occupational therapy to help with daily tasks. A team of specialists usually works together to provide the best care possible.
Key symptoms:
Underdeveloped or shortened ulna bone in the forearmIntellectual disability (difficulty with learning and thinking)Differences in the shape or movement of the armAbnormal hand or finger developmentShort stature in some individualsDelayed developmental milestonesLimited range of motion in the elbow or wrist
Clinical phenotype terms (20)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ulna hypoplasia-intellectual disability syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Ulna hypoplasia-intellectual disability syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Ulna hypoplasia-intellectual disability 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 Ulna hypoplasia-intellectual disability syndrome.
Community
No community posts yet. Be the first to share your experience with Ulna hypoplasia-intellectual disability syndrome.
Start the conversation →Latest news about Ulna hypoplasia-intellectual disability syndrome
No recent news articles for Ulna hypoplasia-intellectual disability syndrome.
Follow this condition to be notified when news becomes available.
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 genetic tests should we do to confirm the diagnosis and understand the cause?,What therapies would you recommend to help with arm function and daily activities?,What educational supports should we put in place, and how do we access them?,Are there any orthopedic treatments or surgeries that might help improve arm movement?,What should we watch for as our child grows, and how often should we have follow-up appointments?,Are there any clinical trials or research studies we could participate in?,Are there support groups or other families dealing with this condition that we could connect with?
Common questions about Ulna hypoplasia-intellectual disability syndrome
What is Ulna hypoplasia-intellectual disability syndrome?
Ulna hypoplasia-intellectual disability syndrome is a very rare condition that affects both the bones of the forearm and brain development. 'Ulna hypoplasia' means that the ulna — one of the two bones in the forearm — is smaller than normal or underdeveloped. This can affect the shape and movement of the arm and hand. Along with this bone difference, people with this syndrome also have intellectual disability, meaning they may have challenges with learning, thinking, and daily problem-solving compared to others their age. This syndrome is present from birth, and the physical differences in th
How is Ulna hypoplasia-intellectual disability syndrome inherited?
Ulna hypoplasia-intellectual disability syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ulna hypoplasia-intellectual disability syndrome typically begin?
Typical onset of Ulna hypoplasia-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.