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GTR Home > Conditions/Phenotypes > Axial spondylometaphyseal dysplasia

Axial spondylometaphyseal dysplasia

Synonyms
Axial SMD
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora (summary by Suzuki et al., 2011). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C21orf2, LRRC76, RDMS, SMDAX, YF5/A2, CFAP410
    Summary: cilia and flagella associated protein 410

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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