Living with Autosomal recessive multiple pterygium syndrome
An inherited condition with skin webbing and limited movement that begins before birth.
Understanding Autosomal recessive multiple pterygium syndrome
The skin webs (pterygia) usually affect the neck, fingers, elbows, or knees. People may also have stiff joints (arthrogryposis), a sideways curve of the spine (scoliosis), and distinctive facial features. Boys can have undescended testes. Signs are seen during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin webs at the elbows, armpits, neck, or knees
- Stiff joints (arthrogryposis)
- Drooping upper eyelids (ptosis)
- Wide-set eyes (telecanthus)
- Cleft lip or palate (orofacial cleft)
- Small head size (microcephaly)
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 CHRNG 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
Most cases are caused by changes in the CHRNG gene. It tends to be autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive non-lethal multiple pterygium syndrome; escobar syndrome; escobar variant multiple pterygium syndrome; evmps; multiple pterygium syndrome, autosomal recessive; multiple pterygium syndrome, escobar variant
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 Autosomal recessive multiple pterygium syndrome.
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