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GTR Home > Conditions/Phenotypes > Langer mesomelic dysplasia syndrome

Langer mesomelic dysplasia syndrome

Synonyms
Dyschondrosteosis, homozygous; Langer Mesomelic Dwarfism; Langer mesomelic dysplasia; Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes. [from OMIM]

Available tests

33 tests are in the database for this condition.

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Clinical tests (33 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GCFX, PHOG, SHOX1, SHOXY, SS, SHOX
    Summary: SHOX homeobox

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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