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Acrodysplasia scoliosis

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

Overview

A rare inherited genetic disorder characterized by short fingers and toes, scoliosis, carpal synostosis (fused bones of the wrist). and other spine anomalies. Acrodysostosis is an extremely rare congenital (present at birth) disorder marked by problems in the bones of the hands, feet, and nose, and mental retardation. Acrodysplasia scoliosis is a rare condition that has been reported in two brothers.

Symptoms - Acrodysplasia scoliosis

  • Short fingers and toes (brachydactyly)
  • Scoliosis
  • Short foot
  • Spina bifida occulta
  • Brachydactyly syndrome
  • Vertebral segmentation anomaly

Causes - Acrodysplasia scoliosis

The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. 

Prevention - Acrodysplasia scoliosis

Not supplied.

Diagnosis - Acrodysplasia scoliosis

Mild worm infections undiagnosed in children Mesenteric adenitis misdiagnosed as appendicitis in children Blood pressure cuffs misdiagnose hypertension in children Children with migraine often misdiagnosed.

Prognosis - Acrodysplasia scoliosis

Not supplied.

Treatment - Acrodysplasia scoliosis

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

Resources - Acrodysplasia scoliosis

  • NIH
Videos
by Abidemi Uruejoma
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Clinical Trials
No clinical trial found
Research Publications