Living with Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
A rare genetic condition with tall stature, stretchy fragile skin, distinct facial features and brain changes.
Understanding Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
People grow tall after birth with long hands and feet and scoliosis. The skin is thin, fragile and very stretchy, and there may be loss of body fat. Facial features include a prominent forehead, bulging eyes and a pointed chin. Intellectual disability varies, and nervous system function may decline. Brain MRI may show white matter changes. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall stature and overgrowth
- Thin, fragile, stretchy skin
- Scoliosis
- Bulging eyes
- Intellectual disability
- Anxiety or depression
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 and genetic specialists.
- 3Consider genetic testing
Changes in PDGFRB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD lists changes in the PDGFRB gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: kosaki overgrowth syndrome; skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration; skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome.
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