Congenital contractural arachnodactyly (Beals syndrome)

Orphanet J Rare Dis. 2006 Jun 1:1:20. doi: 10.1186/1750-1172-1-20.

Abstract

Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially 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 Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of 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 evaluation and ophthalmologic evaluations are recommended.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / therapy
  • Arachnodactyly* / diagnosis
  • Arachnodactyly* / genetics
  • Arachnodactyly* / therapy
  • Contracture / congenital*
  • Contracture / diagnosis
  • Contracture / genetics
  • Contracture / therapy
  • Diagnosis, Differential
  • Ear Auricle / abnormalities*
  • Female
  • Fibrillin-2
  • Fibrillins
  • Humans
  • Infant, Newborn
  • Kyphosis / congenital*
  • Kyphosis / diagnosis
  • Kyphosis / genetics
  • Kyphosis / therapy
  • Marfan Syndrome / diagnosis
  • Microfilament Proteins / genetics
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Syndrome

Substances

  • FBN2 protein, human
  • Fibrillin-2
  • Fibrillins
  • Microfilament Proteins