Overview
Sillence syndrome, also known as osteodysplastic primordial dwarfism type III or brachymorphia-onychodysplasia-dysphalangism syndrome, is an extremely rare genetic condition that affects bone and skeletal development. This disorder was first described by Dr. David Sillence and is characterized by a combination of short stature (dwarfism), distinctive facial features, and abnormalities of the fingers, toes, and nails. People with Sillence syndrome typically have shortened limbs, abnormally shaped finger and toe bones (dysphalangism), and underdeveloped or abnormal nails (onychodysplasia). The facial features may include a flattened midface and a broad nasal bridge. Skeletal X-rays often reveal unusual bone shapes and delayed bone maturation. Because this condition is so rare, the treatment landscape is limited and primarily supportive. There is no cure or specific disease-modifying therapy available. Management focuses on addressing individual symptoms, which may include orthopedic care for skeletal abnormalities, monitoring growth, and supportive therapies to maximize function and quality of life. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk. Due to the rarity of this condition, much of the medical knowledge comes from a very small number of reported cases in the medical literature.
Also known as:
Key symptoms:
Short stature or dwarfismShortened limbsAbnormally shaped finger and toe bonesUnderdeveloped or abnormal nailsFlattened midfaceBroad nasal bridgeShort hands and feetDelayed bone developmentJoint stiffness or limited joint movementUnusual body proportions
Clinical phenotype terms (26)— hover any for plain English
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 Sillence syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Sillence syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Sillence 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 Sillence 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 skeletal abnormalities does my child have, and how might they change over time?,Should we pursue genetic testing, and what type would be most informative?,Are there any growth-related treatments that could help?,What therapies (physical, occupational) would benefit my child the most?,How often should we schedule follow-up X-rays or orthopedic evaluations?,Are there any complications we should watch for as my child grows?,Can you connect us with other families or specialists experienced with this condition?
Common questions about Sillence syndrome
What is Sillence syndrome?
Sillence syndrome, also known as osteodysplastic primordial dwarfism type III or brachymorphia-onychodysplasia-dysphalangism syndrome, is an extremely rare genetic condition that affects bone and skeletal development. This disorder was first described by Dr. David Sillence and is characterized by a combination of short stature (dwarfism), distinctive facial features, and abnormalities of the fingers, toes, and nails. People with Sillence syndrome typically have shortened limbs, abnormally shaped finger and toe bones (dysphalangism), and underdeveloped or abnormal nails (onychodysplasia). The f
How is Sillence syndrome inherited?
Sillence syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sillence syndrome typically begin?
Typical onset of Sillence syndrome is neonatal. Age of onset can vary across affected individuals.