What is Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia is an extremely rare condition in which certain parts of the body grow much larger than normal due to an overgrowth of fat and fibrous (connective) tissue. This condition is also sometimes referred to as fibroadipose hyperplasia or as part of the PIK3CA-related overgrowth spectrum (PROS). The overgrowth is "segmental," meaning it does not affect the whole body but rather specific regions, such as a limb, part of the trunk, or other body areas. The overgrowth tends to be progressive, meaning it can worsen over time, especially during childhood growth periods. Key symptoms include asymmetric enlargement of affected body parts, soft tissue masses made up of fat and fibrous tissue, skeletal abnormalities in the overgrown areas, and sometimes vascular malformations (abnormal blood vessels). The overgrowth can lead to significant differences in limb length or size, which may cause difficulty with movement, pain, and functional limitations. Some patients may also develop skin changes in the affected areas. There is currently no cure for this condition. Treatment focuses on managing symptoms and may include surgery to reduce overgrown tissue (debulking), orthopedic interventions for limb length differences, and targeted drug therapies. Alpelisib (Vijoice), a PIK3CA inhibitor, has been approved by the FDA for PIK3CA-related overgrowth spectrum conditions and represents an important advance in treatment. A multidisciplinary team of specialists is typically needed to manage the various aspects of this condition.
Key symptoms:
Asymmetric overgrowth of one or more body partsSoft, fatty tissue masses under the skinLimb length differencesProgressive enlargement of affected areasSkeletal abnormalities in overgrown regionsVascular malformations (abnormal blood vessels)Skin changes such as thickening or discolorationPain in overgrown areasDifficulty walking or moving due to uneven limb sizeJoint problems in affected limbsScoliosis or other spine curvature if the trunk is involvedFunctional limitations in daily activities
Clinical phenotype terms (14)— hover any for plain English
- OvergrowthHP:0001548
- Increased adipose tissueHP:0009126
- Vascular skin abnormalityHP:0011276
- LipomaHP:0012032
- Capillary malformationHP:0025104
- HyperostosisHP:0100774
- Hydrocele testisHP:0000034
- Epidermal nevusHP:0010816
- Cutaneous syndactylyHP:0012725
- Epididymal cystHP:0030424
- Inheritance
- Sporadic
- Usually appears on its own, not inherited from a parent
- Age of Onset
- Variable
- Can begin at different ages, from infancy through adulthood
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Segmental progressive overgrowth syndrome with fibroadipose hyperplasia.
Community
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Start the conversation →Latest news about Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia.
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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.Has genetic testing of the affected tissue been done to confirm a PIK3CA mutation?,Is my child (or am I) a candidate for alpelisib (Vijoice) treatment, and what are the potential benefits and side effects?,How often should imaging be done to monitor the overgrowth?,What surgical options are available, and what is the likelihood of tissue regrowth after surgery?,Are there clinical trials currently enrolling for this condition?,What specialists should be part of our care team, and how often should we see them?,What can we do to manage pain and improve daily function?
Common questions about Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
What is Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia is an extremely rare condition in which certain parts of the body grow much larger than normal due to an overgrowth of fat and fibrous (connective) tissue. This condition is also sometimes referred to as fibroadipose hyperplasia or as part of the PIK3CA-related overgrowth spectrum (PROS). The overgrowth is "segmental," meaning it does not affect the whole body but rather specific regions, such as a limb, part of the trunk, or other body areas. The overgrowth tends to be progressive, meaning it can worsen over time, especia
How is Segmental progressive overgrowth syndrome with fibroadipose hyperplasia inherited?
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Frequently asked questions about Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:314662). It is typically inherited as sporadic. Age of onset is generally variable. For verified primary sources, see the UniteRare Segmental progressive overgrowth syndrome with fibroadipose hyperplasia page.
How is Segmental progressive overgrowth syndrome with fibroadipose hyperplasia inherited?
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia follows sporadic inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?
Approved treatments for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?
Active clinical trials for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?
Verified Segmental progressive overgrowth syndrome with fibroadipose hyperplasia specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Segmental progressive overgrowth syndrome with fibroadipose hyperplasia page for complete clinical details, sources, and verified-specialist listings.
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