Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Congenital contractural arachnodactyly

Synonym(s) Beals syndrome
Beals-Hecht syndrome
CCA syndrome
Distal arthrogryposis type 9
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q68.8
  • C0220668
  • C536211
MedDRA -


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.


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.

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.


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

Expert reviewer(s)

  • Dr Yasemin ALANAY
  • Pr Ergül TUNÇBILEK

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Emergency guidelines
Anesthesia guidelines
Review article
Article for general public
Clinical genetics review
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.