Overview
Short rib-polydactyly syndrome type 5 (SRPS type 5) is a very rare and severe condition that affects how a baby's skeleton and organs develop before birth. It belongs to a group of disorders called short rib-polydactyly syndromes (SRPS), sometimes also referred to as skeletal ciliopathies because they are caused by problems with tiny hair-like structures on cells called cilia. In SRPS type 5, the ribs are abnormally short and narrow, which means the chest cavity is too small to allow the lungs to grow properly. Babies also often have extra fingers or toes (polydactyly), along with other bone abnormalities throughout the body. Because the chest is so small, the lungs cannot develop enough to support breathing after birth. This makes SRPS type 5 a life-threatening condition, and sadly most affected babies do not survive beyond the newborn period. Other organs such as the kidneys, heart, and liver may also be affected. The condition is usually detected during pregnancy through ultrasound, which can show the characteristic short ribs, small chest, and extra digits. There is currently no cure, and treatment focuses on comfort and supportive care for the baby and family.
Key symptoms:
Very short, narrow ribs leading to a small chestUnderdeveloped lungs (pulmonary hypoplasia)Extra fingers or toes (polydactyly)Short limbs and shortened long bonesSmall, narrow chest visible on ultrasound before birthKidney abnormalitiesHeart defectsLiver problemsAbnormal bone development throughout the bodyDifficulty breathing at birth due to small chest
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 Short rib-polydactyly syndrome type 5.
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Specialists
View all specialists →No specialists are currently listed for Short rib-polydactyly syndrome type 5.
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 rib-polydactyly syndrome type 5.
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 gene change was found, and what does it mean for our family?,What is the chance this could happen again in a future pregnancy, and can we test for it prenatally?,What are our options for care after birth, and what can we realistically expect?,Are there any clinical trials or research studies we should know about?,Can you refer us to a palliative care team and a genetic counselor?,Are there support groups or patient organizations for families affected by short rib-polydactyly syndromes?,Should other family members be tested for the gene change?
Common questions about Short rib-polydactyly syndrome type 5
What is Short rib-polydactyly syndrome type 5?
Short rib-polydactyly syndrome type 5 (SRPS type 5) is a very rare and severe condition that affects how a baby's skeleton and organs develop before birth. It belongs to a group of disorders called short rib-polydactyly syndromes (SRPS), sometimes also referred to as skeletal ciliopathies because they are caused by problems with tiny hair-like structures on cells called cilia. In SRPS type 5, the ribs are abnormally short and narrow, which means the chest cavity is too small to allow the lungs to grow properly. Babies also often have extra fingers or toes (polydactyly), along with other bone a
How is Short rib-polydactyly syndrome type 5 inherited?
Short rib-polydactyly syndrome type 5 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short rib-polydactyly syndrome type 5 typically begin?
Typical onset of Short rib-polydactyly syndrome type 5 is neonatal. Age of onset can vary across affected individuals.