Living with Ehlers-Danlos syndrome, musculocontractural type
An inherited connective tissue condition with tight joints in the thumbs and feet, birth differences, and a typical facial look, with normal thinking.
Understanding Ehlers-Danlos syndrome, musculocontractural type
Symptoms can include birth differences, tight joints (contractures) of the thumbs and feet, and a typical facial appearance. Thinking and learning are normal. Other features include easy bruising, bleeding under the skin, nearsightedness, tall height, and delays in motor skills. Signs show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tight joints from birth (arthrogryposis)
- Easy bruising and bleeding
- Delays in motor skills
- Nearsightedness and crossed eyes
- Tall height
- Constipation
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Ehlers-Danlos Society and Bobby Jones Chiari & Syringomyelia Foundation 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); Genetic specialists (geneticists)
- Expert care
- Expert lists: Ehlers-Danlos Society, Bobby Jones Chiari & Syringomyelia Foundation
- 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 Ehlers-Danlos Society 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
GARD says changes in the CHST14 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: adducted thumb-clubfoot syndrome; adducted thumb, clubfoot, progressive joint and skin laxity syndrome; adducted thumbs-arthrogryposis syndrome, dundar type; adducted thumbs, arthrogryposis syndrome, dundar type; arthrogryposis, distal, with peculiar facies and hydronephrosis; atcs
Patient organizations
- Ehlers-Danlos SocietyEhlers-Danlos syndrome, musculocontractural type · United States
- Bobby Jones Chiari & Syringomyelia FoundationEhlers-Danlos syndrome, musculocontractural type · United States
- EDS AwarenessEhlers-Danlos syndrome, musculocontractural type · United States
- The Zebra NetworkEhlers-Danlos syndrome, musculocontractural type · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ehlers-Danlos syndrome, musculocontractural type.
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