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

• Brachydactyly-Scoliosis-Carpal Fusion Syndrome
• Prata-Liberal-Goncalves Syndrome

What is Acrodysplasia Scoliosis? (Definition/Background Information)

• Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist)
• The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner
• Treatment is based on the signs and symptoms present in each person

(Source: Acrodysplasia Scoliosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Acrodysplasia Scoliosis? (Age and Sex Distribution)

• Acrodysplasia Scoliosis 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 Acrodysplasia Scoliosis? (Predisposing Factors)

• A positive family history may be an important risk factor, since Acrodysplasia Scoliosis can be inherited
• Currently, no other risk factors have been clearly identified for the condition

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 Acrodysplasia Scoliosis? (Etiology)

• The underlying genetic cause of Acrodysplasia Scoliosis is unknown
• But, it appears to be inherited in an autosomal recessive manner

(Source: Acrodysplasia Scoliosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Acrodysplasia Scoliosis?

The signs and symptoms of Acrodysplasia Scoliosis may include:

Very frequently present symptoms in 80-99% of the cases:

• Brachydactyly
• Scoliosis

Frequently present symptoms in 30-79% of the cases:

• Spina bifida occulta
• Vertebral segmentation defect

(Source: Acrodysplasia Scoliosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Acrodysplasia Scoliosis Diagnosed?

Acrodysplasia Scoliosis 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 Acrodysplasia Scoliosis?

The complications of Acrodysplasia Scoliosis may include:

• Severe spinal curvature
• Walking difficulties
• Decreased quality of life

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

How is Acrodysplasia Scoliosis Treated?

There is no cure for Acrodysplasia Scoliosis, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Acrodysplasia Scoliosis be Prevented?

Currently, Acrodysplasia Scoliosis may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and 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, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

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

What is the Prognosis of Acrodysplasia Scoliosis? (Outcomes/Resolutions)

• The prognosis of Acrodysplasia Scoliosis 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 Acrodysplasia Scoliosis:

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

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