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GTR Home > Conditions/Phenotypes > Spinal muscular atrophy with congenital bone fractures 1

Spinal muscular atrophy with congenital bone fractures 1

Synonyms
SMA1 with congenital bone fractures

Summary

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22. [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASC-1, ASC1, HsT17391, MDCDC, SMABF1, ZC2HC5, TRIP4
    Summary: thyroid hormone receptor interactor 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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