congenital contractural arachnodactyly

Congenital contractural arachnodactyly is a connective tissue disorder primarily affecting the musculoskeletal system, manifesting with multiple joint contractures, elongated fingers (arachnodactyly), and curvature of the spine. It arises from pathogenic variants in the FBN2 gene and follows an autosomal dominant inheritance pattern. Most features are apparent from birth, although the severity and specific symptoms can vary widely between individuals. Prevalence details remain unclear, and affected individuals are typically identified through their characteristic physical findings.

Individuals with congenital contractural arachnodactyly commonly present with congenital finger flexion contractures, elbow and knee contractures, and an increased upper to lower segment ratio, which are consistently observed. Additional findings include arachnodactyly, camptodactyly, joint stiffness, and abnormal ear features such as crumpled ears and an abnormally folded helix. Many affected individuals also exhibit high palate, scoliosis, and congenital kyphoscoliosis, with some experiencing limited joint extensions and features of arthrogryposis multiplex congenita. Not all individuals experience every feature, and severity varies considerably, with some patients also showing a slender build, disproportionate tall stature, or even cardiovascular involvement like aortic root aneurysm in a subset of cases.

The condition is caused by pathogenic variants in the FBN2 gene, which plays an essential role in the formation and maintenance of connective tissue. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the genetic variant to each child. Even within the same family, the severity and specific symptoms can vary considerably, and not all individuals with the variant will exhibit every clinical feature. Genetic counseling is recommended to help families understand the implications of the genetic findings and to guide family planning decisions.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the individual. Although there are no FDA-approved treatments specifically for congenital contractural arachnodactyly, a multidisciplinary approach is recommended to address the various manifestations of the condition. Supportive therapies may include physical and occupational therapy to improve mobility and joint function along with regular surveillance for potential complications such as worsening scoliosis or cardiac issues. Patients should discuss treatment options with their healthcare team, and genetic counseling is advised to provide further guidance.

The long-term outlook for congenital contractural arachnodactyly varies widely; while some individuals experience relatively stable symptoms, others may develop progressive musculoskeletal issues that require ongoing management. With current standards of care, many individuals benefit from early interventions and regular surveillance, which help to identify and treat complications promptly. Outcomes described in medical literature continue to evolve as standards of care improve, and advances in supportive management have positively influenced quality of life. Families are encouraged to connect with specialists and genetic counselors to stay informed about management strategies and emerging research.

Clinical trials are underway exploring new treatment approaches for congenital contractural arachnodactyly. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility and emerging research opportunities.