Scoliosis, Isolated, Susceptibility To, 1; Is1

Description

Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (OMIM ), dysautonomia (OMIM ), neurofibromatosis (see {162200}), Friedreich ataxia (see {229300}), and muscular dystrophies. Genetic Heterogeneity of Susceptibility to Isolated ScoliosisLoci for isolated scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2 ), chromosome 8 (IS3 ), chromosome 9q31-q34 (IS4 ), and chromosome 17q25-qter (IS5 ).

Clinical Features

Phenotypes and symptoms related to Scoliosis, Isolated, Susceptibility To, 1; Is1

  • Scoliosis
  • Ataxia
  • Abnormal autonomic nervous system physiology
  • Neurofibromas

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Scoliosis, Isolated, Susceptibility To, 1; Is1 Is also known as adolescent isolated scoliosis, ais, adolescent idiopathic scoliosis.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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