Acrodysplasia scoliosis

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Alternate names

Prata-Liberal-Goncalves syndrome; Brachydactyly-scoliosis-carpal fusion syndrome

Definition

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).

Cause

The underlying genetic cause of the condition is unknown.

Inheritance

Autosomal recessive inheritance, a 25% chance

It appears to be inherited in an autosomal recessive manner.

Signs and symptoms

The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

30%-79% of people have these symptoms

Diagnosis

Treatment

Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info

Acrodysplasia scoliosis is a rare disease.

External links

Wikipedia
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