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GTR Home > Conditions/Phenotypes > Achondrogenesis type II

Achondrogenesis type II

Synonyms
ACHONDROGENESIS, LANGER-SALDINO TYPE; CHONDROGENESIS IMPERFECTA
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. ACG2 is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010). [from OMIM]

Available tests

92 tests are in the database for this condition.

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Clinical tests (92 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED, COL2A1
    Summary: collagen type II alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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