Living with Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
A rare genetic condition with tight joints, skin webbing, fused spine bones, and short stature.
Understanding Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
It belongs to a group called distal arthrogryposis. People have webbing (pterygia), usually at the neck, armpit, and back of the knee, joint contractures, and droopy eyelids. Fingers stay bent, spine bones are fused, and scoliosis (curved spine) can be severe. Short stature is common. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tight joints (contractures)
- Skin webbing at the neck and behind the knees
- Droopy upper eyelids (ptosis)
- Fused spine bones
- Curved spine (scoliosis)
- Short stature
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 MYH3 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
It is caused by changes in the MYH3 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant multiple pterygium syndrome; contractures, pterygia, and spondylocarpostarsal fusion syndrome 1a; contractures, pterygia, and variable skeletal fusions syndrome 1a; cpsfs1a; distal arthrogryposis type 8; multiple pterygium syndrome, autosomal dominant
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 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A.
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