Friday, May 22, 2015 | 03:38 PM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Beals Syndrome
Wednesday, 17 November 2004
Wednesday, 17 November 2004
Congenital Contractual Arachnodactyly


Beals syndrome is a rare, heritable disorder of the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Beals syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Beals syndrome can affect many areas, including the skeleton, muscles, tendons, ligaments, and the heart. The syndrome is present from birth.


Beals Syndrome is a very rare condition that occurs in less than 1 per 10,000 children. The disorder can affect both males and females from all ethnic backgrounds.

Signs and Symptoms

Children with Beals Syndrome may have the following symptoms:

  • Tall, slender stature with arm span exceeding their height
  • Congenital contractures (inability to fully extend the movable joints due to the shortening of muscle tissue that interferes with the muscles ability to passively stretch) in multiple joints
  • Delay in motor development
  • Crumpled appearance of the upper ear
  • Arachnodactyly (long slender fingers and toes)
  • Scoliosis (abnormal curvature of the spine)
  • Osteopenia (reduced bone mass) 
  • Chest deformities such as concave chest (pectus excavatum) or pigeon chest (pectus carinatum)

Possible Causes

Beals Syndrome is caused by a mutation in the gene for fibrillin protein, which acts as building material in connective tissue formation. Since connective tissue provides the structural framework for all organs of the body, this mutation in the connective tissue’s building material is manifested as structural changes in the skin, bone, muscle, tendons, ligaments, and heart. In most cases, Beals Syndrome is inherited from an affected parent in an autosomal dominant pattern. This means that if the parent has the disorder there is a 50% chance of that parent passing it on to their child. However, in some cases Beals Syndrome has been shown to result from a new genetic mutation in a child without an affected parent.


A diagnosis of Beals Syndrome can be made based on the associated physical symptoms, many of which are present from birth. The most distinguishing features at birth are the crumpled ears and long slim limbs and fingers. Prenatal genetic testing and prenatal ultrasound testing are available to parents with Beals Syndrome who are expecting a child.


There is no cure for Beals Syndrome, however children with this disorder benefit from physical therapy aimed at improving the mobility of joints. Sometimes braces are used to provide stability. Children with Beals syndrome should have their heart monitored on a yearly basis to check for cardiovascular complications that may arise in some instances.


The prognosis for children with Beals Syndrome is good. While they may experience some difficulty with joint movements, they are expected to have a normal life span. As the child grows there is usually gradual improvement in joint contractures and joint movements.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


National Marfan Foundation
Great website with general information on Beals Syndrome and links to support groups.

The University of Texas Medical Center
Website with great information on Beals Syndrome and links to research articles

Birth Disorder Information Directory
Great website with several links to other sites with information related to Beals Syndrome

Google Search for Beals Syndrome

References and Sources Su PH (2000) Congenital Contractual Arachnodactyly (Beals Syndrome), Acta Paediatri Taiwan, 41(2), p. 59-62 Viljoen D (1994) Congenital Contractual Arachnodactyly, J Med Genet. 31 (8): 640-3