Living with Geroderma osteodysplastica
A rare condition with loose, wrinkled skin, loose joints, weak bones that break easily, and a face that looks older than expected.
Understanding Geroderma osteodysplastica
People have a typical face with a prematurely aged appearance. Bone problems can include severe osteoporosis leading to frequent fractures, underdeveloped cheekbones and jaw, and some degree of slowed growth. It is noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, wrinkled skin
- Very flexible joints
- Osteoporosis and frequent fractures
- Curved spine (scoliosis)
- Short stature
- Low muscle tone (hypotonia)
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 autoimmune and inflammatory disease specialists, bone and joint specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GORAB 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
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); 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 Children's Skin Disease Foundation
- 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
Changes in the GORAB gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: geroderma osteodysplasticum; go; go - geroderma osteodysplastica; osteodysplastic geroderma; walt disney dwarfism
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Geroderma osteodysplastica.
Explore research for Geroderma osteodysplastica
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- Recruiting studies from ClinicalTrials.gov
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