Living with De Barsy syndrome
A rare genetic condition with loose, wrinkled skin, eye and growth differences, and a prematurely aged look.
Understanding De Barsy syndrome
It was first described in 1968. Symptoms and severity vary a lot. Features may include eye problems, slow growth, distinctive facial features, bone differences, and neurological problems. GARD lists onset before birth, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, wrinkled skin
- Clouding of the eye lens (cataract)
- Low muscle tone in infants (floppy infant)
- Clubfoot
- Hip dislocation present from birth
- Delayed speech and language
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, brain and nervous system specialists and digestive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 The Foundation for Peripheral Neuropathy 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
Some cases are linked to changes in the PYCR1 or ALDH18A1 genes. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive cutis laxa type iii; cutis laxa-corneal clouding-intellectual disability syndrome; cutis laxa-corneal clouding-oligophrenia syndrome; de barsey syndrome; de barsey-moens-dierckx syndrome; progeroid syndrome of de barsey
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with De Barsy syndrome.
Explore research for De Barsy syndrome
Explore actively recruiting De Barsy syndrome studies with HealthSpark.
Find actively recruiting studies for De Barsy syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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