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GTR Home > Conditions/Phenotypes > Lethal congenital contracture syndrome 7

Lethal congenital contracture syndrome 7

Summary

Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). [from OMIM]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CASPR, CHN3, CNTNAP, NRXN4, P190, CNTNAP1
    Summary: contactin associated protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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