Cavernous hemangiomas of face-supraumbilical midline raphe syndrome

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Overview

Cavernous hemangiomas of face-supraumbilical midline raphe syndrome is an extremely rare condition that combines two main features: cavernous hemangiomas (soft, spongy blood vessel growths) on the face and a visible line or ridge (called a raphe) running along the midline of the body from the chest down to the belly button area. Cavernous hemangiomas are a type of vascular malformation made up of enlarged blood vessels that form soft, bluish or reddish masses, most commonly appearing on the face. The supraumbilical midline raphe is an unusual skin finding where a line or scar-like mark appears on the front of the body above the navel, suggesting a defect in how the body's midline tissues came together during early development. This syndrome has been reported in only a handful of cases in the medical literature, making it one of the rarest vascular anomaly syndromes known. Because so few patients have been described, the full range of symptoms and the underlying cause are not well understood. The condition is typically noticed at birth or in early infancy when the facial hemangiomas and the midline raphe become visible. Treatment is generally focused on managing the hemangiomas, which may include observation, medication, laser therapy, or surgery depending on their size, location, and whether they cause complications such as bleeding, vision problems, or breathing difficulties. The midline raphe itself usually does not require treatment unless it causes cosmetic concerns.

Key symptoms:

Soft, spongy blood vessel growths (hemangiomas) on the faceBluish or reddish skin masses on the faceA visible line or ridge running down the middle of the chest and upper bellySkin discoloration along the midline of the bodyPossible swelling around the eyes or nose due to hemangiomasPotential bleeding from hemangiomasPossible vision problems if hemangiomas are near the eyesCosmetic differences on the face and chest

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Cavernous hemangiomas of face-supraumbilical midline raphe syndrome.

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No actively recruiting trials found for Cavernous hemangiomas of face-supraumbilical midline raphe syndrome at this time.

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No specialists are currently listed for Cavernous hemangiomas of face-supraumbilical midline raphe syndrome.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Cavernous hemangiomas of face-supraumbilical midline raphe syndrome.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe are my child's hemangiomas, and are they likely to grow or shrink on their own?,Do any of the hemangiomas pose a risk to vision, breathing, or other functions?,Would medication like propranolol be helpful, and what are the side effects?,Will my child need surgery or laser treatment?,Is genetic testing recommended to look for an underlying cause?,How often should we schedule follow-up visits to monitor the condition?,Are there any activities or situations my child should avoid to prevent complications?

Common questions about Cavernous hemangiomas of face-supraumbilical midline raphe syndrome

What is Cavernous hemangiomas of face-supraumbilical midline raphe syndrome?

Cavernous hemangiomas of face-supraumbilical midline raphe syndrome is an extremely rare condition that combines two main features: cavernous hemangiomas (soft, spongy blood vessel growths) on the face and a visible line or ridge (called a raphe) running along the midline of the body from the chest down to the belly button area. Cavernous hemangiomas are a type of vascular malformation made up of enlarged blood vessels that form soft, bluish or reddish masses, most commonly appearing on the face. The supraumbilical midline raphe is an unusual skin finding where a line or scar-like mark appears

At what age does Cavernous hemangiomas of face-supraumbilical midline raphe syndrome typically begin?

Typical onset of Cavernous hemangiomas of face-supraumbilical midline raphe syndrome is neonatal. Age of onset can vary across affected individuals.