Opsismodysplasia (OPSMD)

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OMIM 57 258480 Orphanet 59 ORPHA2746 ICD10 via Orphanet 34 Q78.8 MESH via Orphanet 45 C537122 UMLS via Orphanet 74 C0432219

MedGen 42 C0432219 MeSH 44 D010009 KEGG 37 H01828 SNOMED-CT via HPO 69 258211005 276709006 194021007 22006008 708670007 95427009 204164000 391987005 249671009 20741006 267038008 423666004 79654002 43476002 249768009 398151007 398152000 84445001 86203003 16294009 90145001 409623005 4996001 80515008 123983008 249310005 237836003 237837007 422065006 249773003 more UMLS 73 C0432219

OMIM : ⁵⁷ 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). (258480)

MalaCards based summary : Opsismodysplasia, also known as opsmd, is related to rickets and hypophosphatemic rickets, x-linked recessive. An important gene associated with Opsismodysplasia is INPPL1 (Inositol Polyphosphate Phosphatase Like 1). Affiliated tissues include bone, and related phenotypes are macrocephaly and pectus excavatum

NIH Rare Diseases : ⁵³ Opsismodysplasia is a rare skeletal dysplasia characterized by congenitalshort stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.

UniProtKB/Swiss-Prot : ⁷⁵ Opsismodysplasia: 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.

Wikipedia : ⁷⁶ Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development)... more...

Clinical features from OMIM:

258480

Search Clinical Trials , NIH Clinical Center for Opsismodysplasia

Search GEO for disease gene expression data for Opsismodysplasia.