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Congenital contractural arachnodactyly

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
OMIM
UMLS
  • C0220668
MeSH
  • C536211
MedDRA -

Summary

Disease definition

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

Epidemiology

The incidence of CCA is unknown and its prevalence is difficult to estimate due to the overlap in phenotype with MFS.

Etiology

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.

Diagnostic methods

Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases.

Differential diagnosis

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.

Antenatal diagnosis

Molecular prenatal diagnosis is possible.

Genetic counseling

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.

Prognosis

Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains.

Expert reviewer(s)

  • Dr Yasemin ALANAY
  • Pr Ergül TUNÇBILEK

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Detailed information

Emergency guidelines
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Review article
Article for general public
Clinical genetics review
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