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opsismodysplasia

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0009785:  opsismodysplasia
GARD:0004098: 
MESH:C537122: 
Orphanet:2746: 
SCTID:254068007: 
UMLS:C0432219: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found