Overview
Sacral hemangiomas-multiple congenital abnormalities syndrome (also known as sacral hemangiomas with multiple congenital anomalies, or Orphanet entry 2125) is an extremely rare condition that is present at birth. It involves a combination of sacral hemangiomas — which are benign blood vessel growths located near the base of the spine (the sacrum) — along with several other birth defects affecting different parts of the body. These additional abnormalities can include problems with the urinary and genital systems, abnormalities of the lower spine and tailbone area, and other structural differences that may affect the limbs or other organs. Because this syndrome involves multiple body systems, the specific symptoms can vary from one person to another. The hemangiomas in the sacral area may be visible as reddish or purplish marks on the skin over the lower back. Some affected individuals may also have problems with bowel or bladder function due to the involvement of the lower spinal structures. Other congenital abnormalities reported in association with this syndrome include kidney malformations, genital anomalies, and skeletal differences. Due to the extreme rarity of this condition, there is very limited published medical literature, and no specific targeted treatment exists. Management is supportive and depends on the specific abnormalities present in each individual. Treatment may involve surgical correction of structural defects, monitoring and possible treatment of hemangiomas, and ongoing care from multiple specialists to address the various organ systems involved.
Key symptoms:
Blood vessel growths (hemangiomas) on or near the lower back/sacral areaAbnormalities of the lower spine or tailboneKidney or urinary tract malformationsGenital abnormalitiesBladder control problemsBowel control problemsSkeletal differences in the lower bodySkin markings or birthmarks over the lower backPossible limb abnormalitiesPossible anorectal malformations
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Sacral hemangiomas-multiple congenital abnormalities syndrome.
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Specialists
View all specialists →No specialists are currently listed for Sacral hemangiomas-multiple congenital abnormalities 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 Sacral hemangiomas-multiple congenital abnormalities syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific abnormalities does my child have, and how severe are they?,Will my child need surgery, and if so, when is the best time?,How should we monitor the hemangiomas, and what signs of complications should we watch for?,Are there any genetic tests that could help us understand the cause?,What is the long-term outlook for my child's mobility, bladder, and bowel function?,Should we see any additional specialists?,Is there a risk that future children could be affected by the same condition?
Common questions about Sacral hemangiomas-multiple congenital abnormalities syndrome
What is Sacral hemangiomas-multiple congenital abnormalities syndrome?
Sacral hemangiomas-multiple congenital abnormalities syndrome (also known as sacral hemangiomas with multiple congenital anomalies, or Orphanet entry 2125) is an extremely rare condition that is present at birth. It involves a combination of sacral hemangiomas — which are benign blood vessel growths located near the base of the spine (the sacrum) — along with several other birth defects affecting different parts of the body. These additional abnormalities can include problems with the urinary and genital systems, abnormalities of the lower spine and tailbone area, and other structural differen
How is Sacral hemangiomas-multiple congenital abnormalities syndrome inherited?
Sacral hemangiomas-multiple congenital abnormalities syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sacral hemangiomas-multiple congenital abnormalities syndrome typically begin?
Typical onset of Sacral hemangiomas-multiple congenital abnormalities syndrome is neonatal. Age of onset can vary across affected individuals.