GTR Home > Conditions/Phenotypes > Opsismodysplasia

Summary

Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013). [from OMIM]

Available tests

8 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: OPSMD, SHIP2, INPPL1
    Summary: inositol polyphosphate phosphatase like 1

Clinical features

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