opsismodysplasia

opsismodysplasia2016-11-27T15:46:39+00:00

opsismodysplasia

GENETICS, ORTHOPAEDICS

A rare autosomal recessive skeletal dysplasia (OMIM:258480) characterised by delayed bone maturation resulting in short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and typical craniofacial defects including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death due to respiratory failure during early life is the norm, but long-term survival has been reported.

Imaging Shortened long bones, delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic defects of the metacarpals and phalanges.

Molecular pathology Defects in INPPL1, an inositol phosphatase that regulates insulin function, epidermal growth factor receptor turnover and actin remodelling, cause opsismodysplasia. 

References http://www.uniprot.org/uniprot/O15357

http://www.omim.org/entry/258480

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