Overview
Digital anomalies-intellectual disability-short stature syndrome is an extremely rare genetic condition that affects several parts of the body. The name describes its three main features: digital anomalies (differences in the fingers and toes), intellectual disability (difficulty with learning and thinking skills), and short stature (being significantly shorter than expected for age and sex). Children born with this syndrome may have unusually shaped or sized fingers and toes, which can include shortened fingers (brachydactyly), curved fingers (clinodactyly), or other structural differences in the hands and feet. Intellectual disability can range from mild to moderate, affecting a child's ability to learn, communicate, and develop everyday skills at the expected pace. Short stature is typically present from early childhood and may become more noticeable as the child grows. Because this syndrome is so rare, there is very limited information available about it in the medical literature. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting the child's development through therapies such as physical therapy, occupational therapy, speech therapy, and special education services. Regular follow-up with multiple specialists is important to monitor growth, development, and any associated health concerns.
Key symptoms:
Short stature or slow growthIntellectual disability or learning difficultiesAbnormally shaped fingers or toesShort fingers (brachydactyly)Curved fingers (clinodactyly)Delayed speech and language developmentDelayed motor milestones like walkingUnusual facial featuresDifficulty with fine motor skillsBehavioral challenges
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 Digital anomalies-intellectual disability-short stature syndrome.
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Specialists
View all specialists →No specialists are currently listed for Digital anomalies-intellectual disability-short stature 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 Digital anomalies-intellectual disability-short stature 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 tests can help confirm this diagnosis?,Should we pursue genetic testing such as whole exome sequencing?,What therapies would benefit my child the most right now?,Is growth hormone therapy an option for my child's short stature?,Will my child's hand or foot differences need surgery?,What educational supports should we put in place?,Is there a chance this condition could affect future children in our family?
Common questions about Digital anomalies-intellectual disability-short stature syndrome
What is Digital anomalies-intellectual disability-short stature syndrome?
Digital anomalies-intellectual disability-short stature syndrome is an extremely rare genetic condition that affects several parts of the body. The name describes its three main features: digital anomalies (differences in the fingers and toes), intellectual disability (difficulty with learning and thinking skills), and short stature (being significantly shorter than expected for age and sex). Children born with this syndrome may have unusually shaped or sized fingers and toes, which can include shortened fingers (brachydactyly), curved fingers (clinodactyly), or other structural differences in
How is Digital anomalies-intellectual disability-short stature syndrome inherited?
Digital anomalies-intellectual disability-short stature syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Digital anomalies-intellectual disability-short stature syndrome typically begin?
Typical onset of Digital anomalies-intellectual disability-short stature syndrome is neonatal. Age of onset can vary across affected individuals.