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Congenital contractural arachnodactyly

Orpha number ORPHA115
Synonym(s) Beals syndrome
Beals-Hecht syndrome
CCA syndrome
Distal arthrogryposis type 9
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q68.8
ICD-O -
OMIM
UMLS
  • C0220668
MeSH
  • C536211
MedDRA -

Summary

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. 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. The incidence of CCA is unknown and its prevalence is difficult to estimate due to the overlap in phenotype with MFS. Beals syndrome is an autosomal dominantly inherited disorder 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. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac and ophthalmologic evaluations are recommended.

Expert reviewer(s)

  • Dr Yasemin ALANAY
  • Pr Ergül TUNÇBILEK

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Detailed information

Emergency guidelines
  • FR (2012,pdf)
Anesthesia guidelines
  • EN (2013,pdf)
Review article
  • EN (2006)
Clinical genetics review
  • EN (2012)
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