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

• Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome
• Brachydactyly, Nystagmus and Cerebellar Ataxia

What is Biemond Syndrome? (Definition/Background Information)

• Biemond Syndrome or Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia
• Intellectual deficit and strabismus are also reported in some patients
• It has been described in four generations of a family

(Source: Brachydactyly-nystagmus-cerebellar ataxia syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Biemond Syndrome? (Age and Sex Distribution)

• Biemond Syndrome is a very rare congenital disorder
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

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

• A positive family history may be an important risk factor, if Biemond Syndrome is an inherited condition
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s 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 Biemond Syndrome? (Etiology)

The exact cause of development of Biemond Syndrome is presently unknown.

What are the Signs and Symptoms of Biemond Syndrome?

The signs and symptoms of Biemond Syndrome may include:

• Ataxia
• Brachydactyly
• Intellectual disability
• Nystagmus
• Short metacarpal
• Short metatarsal
• Strabismus

(Source: Brachydactyly-nystagmus-cerebellar ataxia syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Biemond Syndrome Diagnosed?

Biemond Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

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 are the possible Complications of Biemond Syndrome?

The complications of Biemond Syndrome may include:

• Loss of vision
• Intellectual impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Biemond Syndrome Treated?

Presently, there is no cure for Biemond Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Biemond Syndrome be Prevented?

• Currently, Biemond Syndrome may not be preventable, since the cause of development of this disorder is not well-established
• Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Biemond Syndrome? (Outcomes/Resolutions)

• The prognosis of Biemond Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Biemond Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/