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GTR Home > Conditions/Phenotypes > Larsen-like syndrome, B3GAT3 type

Larsen-like syndrome, B3GAT3 type

Synonyms
LARSEN SYNDROME, AUTOSOMAL RECESSIVE; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal. [from GeneReviews]

Available tests

45 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLCATI, JDSCD, glcUAT-I, B3GAT3
    Summary: beta-1,3-glucuronyltransferase 3

  • Also known as: C6ST, C6ST1, HSD, CHST3
    Summary: carbohydrate sulfotransferase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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