Overview
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: the ulna (one of the two bones in the forearm) is shorter than normal, there are unusual facial and body features (dysmorphism), the muscles have reduced tone (hypotonia), and there is intellectual disability. Children born with this condition typically show signs from birth or early infancy. The low muscle tone can make it harder for babies to feed, move, and reach developmental milestones like sitting and walking. The intellectual disability can range in severity and affects learning, communication, and daily functioning. Facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other distinctive characteristics. Because this syndrome is so rare, there is very limited information about its full range of symptoms and long-term outcomes. There is currently no cure for this condition. Treatment focuses on managing individual symptoms through therapies such as physical therapy, occupational therapy, speech therapy, and special education support. A team of specialists typically works together to provide the best care for affected individuals.
Key symptoms:
Short forearm bones (short ulna)Low muscle tone (floppiness)Intellectual disabilityDelayed development and milestonesUnusual facial featuresDifficulty with feeding in infancyShort statureSpeech and language delaysLimb abnormalitiesLearning difficultiesPoor coordinationBroad forehead or unusual head shape
Clinical phenotype terms (25)— 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 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Short ulna-dysmorphism-hypotonia-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 Short ulna-dysmorphism-hypotonia-intellectual disability 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 specific genetic tests should be done to look for the cause of my child's condition?,What therapies does my child need right now, and how often should they receive them?,Are there any orthopedic concerns related to the short forearm bones that need monitoring?,What developmental milestones should I watch for, and when should I be concerned?,Are there any specialists we should see that we haven't been referred to yet?,Is genetic counseling recommended for our family regarding future pregnancies?,Are there any research studies or registries for this condition that we could participate in?
Common questions about Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
What is Short ulna-dysmorphism-hypotonia-intellectual disability syndrome?
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: the ulna (one of the two bones in the forearm) is shorter than normal, there are unusual facial and body features (dysmorphism), the muscles have reduced tone (hypotonia), and there is intellectual disability. Children born with this condition typically show signs from birth or early infancy. The low muscle tone can make it harder for babies to feed, move, and reach developmental milestones like sitting and walking. T
How is Short ulna-dysmorphism-hypotonia-intellectual disability syndrome inherited?
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short ulna-dysmorphism-hypotonia-intellectual disability syndrome typically begin?
Typical onset of Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.