Omodysplasia

Definition:

Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate disorder.

References:

[1]. Ana Belinda Campos-Xavier, et al. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet. 2009 Jun;84(6):760-70. [Content Brief]

[2]. Howard M Saal, et al. A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. Hum Mol Genet. 2015 Jun 15;24(12):3399-409. [Content Brief]

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