OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

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Overview

Hemihypertrophy-intestinal web-corneal opacity syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic term in Orphanet, meaning it may have been reclassified or merged with another condition. The syndrome was characterized by a combination of three main features: hemihypertrophy (where one side of the body grows larger than the other), intestinal web (a thin membrane or tissue that partially blocks the inside of the intestine), and corneal opacity (a clouding of the clear front part of the eye that can affect vision). These features together affect multiple body systems, including the musculoskeletal system, the digestive tract, and the eyes. Because this condition is obsolete in current classification systems, very little published data exists about its genetic cause, natural history, or specific treatments. Patients who were previously diagnosed with this syndrome may now fall under a broader or updated diagnostic category. Management has generally been supportive and symptom-based, addressing each feature individually — for example, surgery for intestinal obstruction, ophthalmologic care for corneal clouding, and orthopedic monitoring for asymmetric growth. If you or a family member has been given this diagnosis, it is important to work with a clinical geneticist to determine whether a more current diagnosis applies.

Also known as:

Key symptoms:

One side of the body growing larger than the other (hemihypertrophy)Clouding of the front of the eye (corneal opacity)Blockage or narrowing inside the intestine due to a web-like membraneUneven limb length or sizeVision problems or reduced clarity of sightFeeding difficulties in infancyVomiting or signs of intestinal obstructionAbdominal pain or bloating

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome.

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No actively recruiting trials found for OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome at this time.

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No specialists are currently listed for OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity 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 OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome.

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Community

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Latest news about OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is this diagnosis still considered current, or should we pursue updated genetic testing to reclassify the condition?,How often should my child have abdominal ultrasounds to screen for tumors related to hemihypertrophy?,What surgical options are available for the intestinal web, and what is the expected recovery?,What treatments can help with the corneal opacity, and will my child's vision improve?,Should we see a geneticist to look for an underlying genetic cause?,What signs of complications should I watch for at home?,Are there any clinical trials or research studies that might be relevant?

Common questions about OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

What is OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome?

Hemihypertrophy-intestinal web-corneal opacity syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic term in Orphanet, meaning it may have been reclassified or merged with another condition. The syndrome was characterized by a combination of three main features: hemihypertrophy (where one side of the body grows larger than the other), intestinal web (a thin membrane or tissue that partially blocks the inside of the intestine), and corneal opacity (a clouding of the clear front part of the eye that can affect vision).

At what age does OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome typically begin?

Typical onset of OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome is neonatal. Age of onset can vary across affected individuals.