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Congenital Contractural Arachnodactyly.

Authors

Godfrey M.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jan 23 [updated 2012 Feb 23].

Excerpt

CLINICAL CHARACTERISTICS:

Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers and toes (arachnodactyly). Most affected individuals have “crumpled” ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth. The proximal interphalangeal joints also have flexion contractures (i.e., camptodactyly), as do the toes. Hip contractures, adducted thumbs, and club foot may occur. The majority of affected individuals have muscular hypoplasia. Contractures usually improve with time. Kyphosis/scoliosis is present in about half of all affected individuals. It begins as early as infancy, is progressive, and causes the greatest morbidity in CCA. Dilatation of the aorta is occasionally present. Infants have been observed with a severe/lethal form characterized by multiple cardiovascular and gastrointestinal anomalies in addition to the typical skeletal findings.

DIAGNOSIS/TESTING:

CCA is diagnosed on the basis of clinical findings. Mutations in FBN2 (encoding the extracellular matrix microfibril fibrillin 2) are causative.

MANAGEMENT:

Treatment of manifestations: Physical therapy for joint contractures beginning in childhood to increase joint mobility and ameliorate the effects of muscle hypoplasia (usually calf muscles); surgical release of contractures as needed; bracing and/or surgical correction of kyphoscoliosis; standard management of aortic root dilation. Surveillance: Echocardiogram every two years until absence of aortic involvement is evident; at least annual physical examination for evidence of kyphosis/scoliosis.

GENETIC COUNSELING:

Congenital contractural arachnodactyly is inherited in an autosomal dominant manner. Many individuals with CCA have an affected parent, although a proband may have the disorder as the result of a de novo gene mutation. The risk to the sibs of the proband depends on the status of the parents. If the parent of a proband has clinical features of CCA, the risk to the sibs is 50%. Germline mosaicism has been reported. Offspring of affected individuals have a 50% chance of inheriting the pathogenic FBN2 allele. Prenatal testing is possible if the disease-causing mutation has been identified in an affected family member.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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