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Beals Syndrome

Last updated May 11, 2018

Approved by: Maulik P. Purohit MD, MPH

Beals Syndrome is a congenital disorder causing improper growth of bones and tissues, due to the formation and function of connective tissues being affected.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Arthogyrposis Distal 9
  • Beals-Hecht Syndrome
  • Congenital Contractual Arachnodactyly (CCA)

What is Beals Syndrome? (Definition/Background Information)

  • Beals Syndrome is a congenital disorder causing improper growth of bones and tissues, due to the formation and function of connective tissues being affected
  • Beals Syndrome occurs as the result of a mutation in the FBN2 gene which causes the disruption in fibrillin-2. Fibrillin-2 is a vital protein that is necessary for connective tissue formation
  • A few of the signs and symptoms of Beals Syndrome include long thin limbs, permanently bent limbs, and a curved upper back
  • The complications associated with Beals Syndrome may include stroke or digestive system abnormalities
  • The treatment of Beals Syndrome may be divided as invasive and non-invasive. These may be employed depending upon the severity of the condition
  • The prognosis for individuals with Beals Syndrome is dependent on how severe the condition is, and the associated complications; generally, mild cases do much better than severe ones

Who gets Beals Syndrome? (Age and Sex Distribution)

  • Beals Syndrome is thought to occur in less than 1 in every 10,000 births. The data on Beals Syndrome is not clear, since many a times it is confused for Marfan syndrome
  • Beals Syndrome is a congenital disorder that is typically observed during infancy
  • The condition affects both males and females and no preference is seen
  • All ethnic groups and races are affected

What are the Risk Factors for Beals Syndrome? (Predisposing Factors)

  • The risk factors for Beals Syndrome are genetic. It depends on the parents’ genes, indicating that a family history of the condition is the biggest risk factor
  • The condition follows an autosomal dominant inheritance pattern, meaning only one defective allele is needed for an individual to have Beals Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Beals Syndrome? (Etiology)

  • Beals Syndrome is caused by a mutation in the FBN2 gene. The mutation leads to fibrillin-2 activity being disrupted
  • Fibrillin-2 is a protein that s responsible for making microfibrils, an important connective tissue component, which supports bone and muscle
  • Due to this abnormality affecting the bones and muscles, the signs and symptoms of the disorder are manifested
  • Beals Syndrome is inherited from the parents in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Beals Syndrome?

The signs and symptoms of Beals Syndrome vary based on the severity of the condition. Common signs and symptoms of Beals Syndrome may include:

  • Permanent contraction of the joints; some joints are affected more often than others. In over 80% of the cases, the knees and elbows are involved; the thumbs are involved in over 45% of the cases
  • Arachnodactyly: Elongation of the fingers and toes
  • Marfan syndrome-like features that include tall and slender body with wing span of the (outstretched) arms longer than the height of the individual
  • Ears that appear crumpled and misshapen
  • Scoliosis or the curving of the spine
  • Lack of muscular growth

Less common signs and symptoms of Beals Syndrome may include:

  • An enlarged forehead and tiny jaw
  • Short neck
  • Bowed (slightly curved) arm and leg bones

Severe and rare signs and symptoms of Beals Syndrome may include:

  • Numerous intestinal deformities that may include:
    • Narrowing of the esophagus near the stomach
    • Blockage of the intestines
  • Multiple cardiovascular deformities that may include:
    • Enlargement of the aortic artery near the heart
    • Blood flow being blocked around the heart

How is Beals Syndrome Diagnosed?

The primary method of diagnosing Beals Syndrome is by:

  • Undertaking a physical examination and thorough assessment of the individual’s medical history (including family history of Beals Syndrome, if any)
  • Assessment of all the clinical signs and symptoms of Beals Syndrome
  • If the disorder is suspected, a genetic test can be done to confirm the diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What the possible Complications of Beals Syndrome?

The complications of Beals Syndrome include:

  • Blurred vision or blindness due to enlargement of the cornea
  • Severe deformities of the bones and spine
  • Incomplete closing of heart valves resulting in abnormal flow of blood within the heart
  • Congestive heart failure

The complications depend upon the severity of signs and symptoms and they vary from one individual to another.

How is Beals Syndrome Treated?

The treatment measures for Beals Syndrome are intended to improve the signs and symptoms of the condition caused by the genetic abnormality. The treatment may be classified into 2 categories:

  • Non- invasive procedures: Physical therapy to lessen the contractions of the muscles and increase joint flexibility
  • Invasive procedures that may include:
    • Surgery to relax contracted joints, which is performed only when physical therapy is not effective
    • Surgery to repair various deformities in the blood vessels and digestive tract

Constant follow-ups and physical examinations have to be maintained with a healthcare professional to ensure that no new complications develop.

How can Beals Syndrome be Prevented?

  • Currently, there are no specific methods or guidelines of prevention for Beals Syndrome, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) followed by prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks prior to childrearing
  • Active research is currently being performed in order to explore both treatment and prevention methods for genetic disorders such as Beals Syndrome

Regular medical screening at periodic intervals with tests and physical examinations are highly recommended.

What is the Prognosis for Beals Syndrome? (Outcomes/Resolutions)

  • The prognosis of Beals Syndrome is dependent on the severity of the signs and symptoms. Individuals with a mild condition do better than an individual with a severe condition
  • The joint contractions are non-lethal, but can affect the standard of living and quality of life
  • Complications involving the cardiovascular and digestive system are typically serious and can be lethal

Additional and Relevant Useful Information for Beals Syndrome:

  • The condition is very similar to Marfan syndrome and needs to be properly assessed by a healthcare professional in order to provide the best treatment
  • Many different genetic disorders may be associated with Beals Syndrome, and these may include:
    • Homocystinuria 
    • Stickler syndrome

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: July 10, 2016
Last updated: May 11, 2018