Overview
Short stature-brachydactyly-obesity-global developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have shorter than average height, brachydactyly (which means unusually short fingers and toes), obesity that often begins in childhood, and global developmental delay, meaning children reach milestones like sitting, walking, and talking later than expected. This condition is caused by changes in a specific gene and is present from birth, though some features may become more noticeable as a child grows. Because this syndrome affects several parts of the body at once, children may also experience learning difficulties and intellectual disability of varying degrees. Some individuals may have distinctive facial features and other physical differences. The condition is so rare that medical knowledge about it is still growing, and there is no specific cure at this time. Treatment focuses on managing individual symptoms and supporting development through therapies such as physical therapy, occupational therapy, and speech therapy. A team of specialists typically works together to provide the best care for affected individuals. Early intervention services can help children reach their full potential, even though developmental delays are expected.
Also known as:
Key symptoms:
Short stature or being shorter than expected for ageShort fingers and toes (brachydactyly)Obesity or significant weight gain, often starting in childhoodGlobal developmental delay (slow to reach milestones like walking and talking)Intellectual disability, which can range from mild to moderateDistinctive facial featuresSpeech and language delaysMotor skill delaysLearning difficultiesBehavioral challengesPossible skeletal abnormalities
Clinical phenotype terms (45)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Short stature-brachydactyly-obesity-global developmental delay syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Short stature-brachydactyly-obesity-global developmental delay syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Short stature-brachydactyly-obesity-global developmental delay 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 stature-brachydactyly-obesity-global developmental delay syndrome.
Community
No community posts yet. Be the first to share your experience with Short stature-brachydactyly-obesity-global developmental delay syndrome.
Start the conversation →Latest news about Short stature-brachydactyly-obesity-global developmental delay syndrome
1 articlesCaregiver 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 gene change was found, and what does it mean for my child's health?,What therapies should we start right away to support my child's development?,How can we best manage my child's weight and nutrition?,What developmental milestones should we be tracking, and when should we be concerned?,Are there any clinical trials or research studies my child could participate in?,What educational supports or accommodations should we request at school?,Should other family members be tested for this genetic change?
Common questions about Short stature-brachydactyly-obesity-global developmental delay syndrome
What is Short stature-brachydactyly-obesity-global developmental delay syndrome?
Short stature-brachydactyly-obesity-global developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have shorter than average height, brachydactyly (which means unusually short fingers and toes), obesity that often begins in childhood, and global developmental delay, meaning children reach milestones like sitting, walking, and talking later than expected. This condition is caused by changes in a specific gene and is present from birth, though some features may become more noticeable as a c
How is Short stature-brachydactyly-obesity-global developmental delay syndrome inherited?
Short stature-brachydactyly-obesity-global developmental delay syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short stature-brachydactyly-obesity-global developmental delay syndrome typically begin?
Typical onset of Short stature-brachydactyly-obesity-global developmental delay syndrome is infantile. Age of onset can vary across affected individuals.