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Skeletal dysplasia, mild, with joint laxity and advanced bone age

Summary

CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CSGalNAcT-1, ChGn, ChGn-1, SDJLABA, beta4GalNAcT, CSGALNACT1
    Summary: chondroitin sulfate N-acetylgalactosaminyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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