Overview
Transverse limb deficiency-hemangioma syndrome is a very rare condition present from birth that combines two main features: missing or incomplete development of one or more limbs (called transverse limb deficiencies) and abnormal blood vessel growths called hemangiomas. A transverse limb deficiency means that a limb — such as an arm or leg — did not fully form during pregnancy, and the part below a certain point is absent, as if the limb was cut across. Hemangiomas are benign (non-cancerous) growths made up of extra blood vessels, which can appear on the skin or inside the body. This condition is also sometimes referred to as Adams-Oliver syndrome-like presentation or limb reduction defect with vascular anomalies, though it is considered its own distinct syndrome. The exact cause of this syndrome is not fully understood, and only a small number of cases have been reported in the medical literature. The limb differences are present at birth and do not get worse over time, but they can affect how a child moves, uses their hands, or walks depending on which limb is involved. Hemangiomas may vary in size and location and can sometimes cause complications depending on where they are found. Treatment focuses on managing each feature separately — prosthetics or assistive devices for limb differences, and monitoring or treating hemangiomas as needed. A team of specialists is usually involved in care.
Key symptoms:
Missing or incomplete development of part of a limb (arm or leg) present at birthAbnormal blood vessel growths (hemangiomas) on the skin or inside the bodyShortened or absent fingers or toesLimb ending abruptly at a certain point, as if cut acrossSkin discoloration or raised red patches from hemangiomasPossible difficulty with hand function or graspingPossible difficulty with walking or balance if legs are affected
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 Transverse limb deficiency-hemangioma syndrome.
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Specialists
View all specialists →No specialists are currently listed for Transverse limb deficiency-hemangioma 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 Transverse limb deficiency-hemangioma 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
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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.Which specialists should be part of my child's care team, and how often should we see each one?,Should we pursue genetic testing, and what might it tell us about the cause or recurrence risk?,What are the signs that a hemangioma needs treatment, and when should I call you urgently?,What prosthetic or assistive device options are available for my child's specific limb difference?,How will this condition affect my child's development, school participation, and independence?,Are there any support groups or patient communities for families dealing with limb differences or hemangiomas?,What should I watch for as my child grows that might require new interventions?
Common questions about Transverse limb deficiency-hemangioma syndrome
What is Transverse limb deficiency-hemangioma syndrome?
Transverse limb deficiency-hemangioma syndrome is a very rare condition present from birth that combines two main features: missing or incomplete development of one or more limbs (called transverse limb deficiencies) and abnormal blood vessel growths called hemangiomas. A transverse limb deficiency means that a limb — such as an arm or leg — did not fully form during pregnancy, and the part below a certain point is absent, as if the limb was cut across. Hemangiomas are benign (non-cancerous) growths made up of extra blood vessels, which can appear on the skin or inside the body. This condition
How is Transverse limb deficiency-hemangioma syndrome inherited?
Transverse limb deficiency-hemangioma syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Transverse limb deficiency-hemangioma syndrome typically begin?
Typical onset of Transverse limb deficiency-hemangioma syndrome is neonatal. Age of onset can vary across affected individuals.