Simpson dysmorphia syndrome
Simpson dysmorphia syndrome - an x-linked recessive syndrome caused by mutation(s) in the gpc3, ofd1, or rarely the gpc4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities.
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Contributors: Prab R. Tumpati, MD
