Living with Congenital contractural arachnodactyly
A genetic condition with tall height, long slender fingers and toes, bent joints and sometimes a curved spine.
Understanding Congenital contractural arachnodactyly
People are typically tall with long limbs and long, slender fingers and toes. They often have permanently bent joints that limit movement in the hips, knees, ankles or elbows. Other features include a rounded, curved upper back, crumpled-looking ears and a protruding chest. Heart differences are rare. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall height with long limbs
- Long, slender fingers and toes (arachnodactyly)
- Permanently bent joints (contractures)
- Curved spine (kyphoscoliosis)
- Crumpled-looking ears
- Protruding chest (pectus carinatum)
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 and genetic specialists.
- 3Consider genetic testing
Changes in FBN2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Marfan 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); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Marfan 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 The Marfan 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
It is caused by changes in the FBN2 gene. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: arthrogryposis, distal, type 9; beals hecht syndrome; beals syndrome; beals-hecht syndrome; cca; cca - congenital contractural arachnodactyly
Patient organizations
- The Marfan FoundationCongenital contractural arachnodactyly · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital contractural arachnodactyly.
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