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GTR Home > Conditions/Phenotypes > Chondrodysplasia Blomstrand type

Chondrodysplasia Blomstrand type

Synonyms
Blomstrand lethal osteochondrodysplasia; Blomstrand's lethal chondrodysplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Blomstrand chondrodysplasia is an autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EKNS, PFE, PTHR, PTHR1, PTH1R
    Summary: parathyroid hormone 1 receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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