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Congenital contractural arachnodactyly
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
ORPHA:115Classification level: Disorder
The incidence of CCA is unknown and its prevalence is difficult to estimate due to the overlap in phenotype with MFS.
Beals syndrome is caused by a mutation in the FBN2 gene on chromosome 5q23. The number of patients reported has increased following the identification of the FBN2 mutation.
Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases.
Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the elbow, knee, and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in MFS.
Molecular prenatal diagnosis is possible.
Beals syndrome is an autosomal dominantly inherited disorder.
Management and treatment
Management of children with CCA is symptomatic. Early intervention for scoliosis can prevent morbidity later in life. Cardiac and ophthalmologic evaluations are recommended.
Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains.
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