Living with Proteus syndrome
A rare condition in which bones, skin, and other tissues overgrow unevenly, usually becoming clear in early childhood.
Understanding Proteus syndrome
Affected parts grow out of proportion to the rest of the body, and the overgrowth is usually uneven from side to side. Newborns show few or no signs, and overgrowth becomes clear between 6 and 18 months and gets more severe with age. Skin growths, blood vessel and fat changes, and distinct facial features can occur. Some people have neurological features such as seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overgrowth of bones in the limbs, skull, or spine
- A thick, grooved skin growth (cerebriform connective tissue nevus)
- Uneven chest or body
- Blood vessel malformations
- Skin patches and pigment changes
- Unusual fat tissue distribution
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, cancer specialists and ear, nose, and throat specialists.
- 3Consider genetic testing
Changes in AKT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Ear, nose, and throat specialists (otolaryngologists)
- Expert care
- Expert lists: World Craniofacial Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Proteus Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the AKT1 gene.
Also known as: elattoproteus syndrome; gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly; hemihypertrophy and macrocephaly; macrocephaly mesodermal hamartoma spectrum; partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly; partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Patient organizations
- Proteus Syndrome FoundationProteus syndrome · United States
- Klippel-Trenaunay Support GroupProteus syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Proteus syndrome.
Explore research for Proteus syndrome
Explore actively recruiting Proteus syndrome studies with HealthSpark.
Find actively recruiting studies for Proteus syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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