Omodysplasia 1
Omodysplasia 1 (OMOD1; MIM 258315) is a congential, autosomal recessive rhizomelic dysplasia. It is characterized by proximal shortening and distal tapering of the humeri and femora. Some other skeletal findings may include limited flexion or extension of the elbows and knees, hypoplasia of the distal humeri, radioulnar diastasis, anterior lateral dislocation of the radial head, hypoplastic everted lateral condyle, proximal club shaped femurs, short and thick tibiae and fibulae. Facial anomalies include frontal bossing, small nose with a depressed nasal bridge, flat face, micrognathia, long philtrum, epicanthal folds, low set ears and facial hemangiomas. Some individuals have been described with congenital heart defects, cryptorchidism, umbilical hernia and cognitive delay. Autosomal recessive omodysplasia is caused by loss of function mutations in the glypican 6 gene (GPC6). Glypican 6 is a glycosylphosphatidylinositol anchored cell surface heparin sulfate proteoglycan. It is thought to be involved in the regulation of growth factor signaling in mesenchymal tissues, especially in proliferative zone of the growth plate.
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