Type of disease: Rare conditions
Acrodysplasia scoliosis (AS) is a rare genetic condition that has only been reported in two brothers. Symptoms of AS include scoliosis (curved spine), brachydactyly (abnormally short fingers/toes), fused wrist bones, and spina bifida occulta (malformation of one or more vertebrae and the spinal cord). Symptoms are noticeable at birth.
Due to the extreme rarity of AS, the underlying genetic cause is still unknown; however, it is most likely passed down in an autosomal recessive manner. This means both parents must have the AS-causing genetic mutation for offspring to have the disease.
Complications of untreated AS may include a severe spinal curvature, problems walking, and decreased quality of life. A specific cure for AS is not currently known and treatment is based on managing individual symptoms. AS may be diagnosed through a physical examination, thorough family medical history evaluation, assessment of symptoms, and/or laboratory and imaging tests. Genetic counseling may be recommended for individuals with AS and their families.
If you or a family member have been diagnosed with AS, speak with your doctor about the most current treatment options. Support groups may also be available for further resources and information.