Overview
Growth deficiency-brachydactyly-dysmorphism syndrome is an extremely rare genetic condition that affects a child's growth, bone development, and facial features. The name describes its main features: growth deficiency (being significantly shorter than expected), brachydactyly (unusually short fingers and toes), and dysmorphism (distinctive facial features that differ from typical appearance). Children with this condition are often born small and continue to grow more slowly than their peers throughout childhood. The short fingers and toes result from shortened bones in the hands and feet. Facial features may include a broad or flat nose, widely spaced eyes, and other subtle differences. Some individuals may also have mild intellectual challenges or developmental delays, though this varies from person to person. Because this syndrome is so rare, with very few cases described in medical literature, the full range of symptoms and their severity is not completely understood. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, supporting growth and development, and providing therapies as needed. A team of specialists typically works together to address the various aspects of this syndrome.
Also known as:
Key symptoms:
Short stature or growth deficiencyShort fingers and toesDistinctive facial featuresLow birth weightBroad or flat noseWidely spaced eyesDelayed developmentSmall head sizeAbnormal bone development in hands and feetPossible mild intellectual disability
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Growth deficiency-brachydactyly-dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Growth deficiency-brachydactyly-dysmorphism 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 Growth deficiency-brachydactyly-dysmorphism 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 features does my child have that led to this diagnosis?,Is genetic testing available that could confirm the diagnosis or identify the exact cause?,Would growth hormone therapy be appropriate for my child?,What therapies (occupational, physical, speech) would benefit my child?,How often should my child be seen for growth and developmental monitoring?,Are there any other health problems we should watch for?,Can you refer us to a genetic counselor to discuss family planning implications?
Common questions about Growth deficiency-brachydactyly-dysmorphism syndrome
What is Growth deficiency-brachydactyly-dysmorphism syndrome?
Growth deficiency-brachydactyly-dysmorphism syndrome is an extremely rare genetic condition that affects a child's growth, bone development, and facial features. The name describes its main features: growth deficiency (being significantly shorter than expected), brachydactyly (unusually short fingers and toes), and dysmorphism (distinctive facial features that differ from typical appearance). Children with this condition are often born small and continue to grow more slowly than their peers throughout childhood. The short fingers and toes result from shortened bones in the hands and feet. Faci
How is Growth deficiency-brachydactyly-dysmorphism syndrome inherited?
Growth deficiency-brachydactyly-dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Growth deficiency-brachydactyly-dysmorphism syndrome typically begin?
Typical onset of Growth deficiency-brachydactyly-dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.