Schinzel-Giedion Syndrome {SGS}

Schinzel-Giedion Syndrome {SGS}. The principal symptoms are coarse facies characterised by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, malformed ears, protruding large tongue, and hypertelorism. Skeletal defects include open cranial sutures, steep short skull, wide occipital synchondrosis, multiple wormian bones, hypoplastic ribs, and broad ribs` limb defects consist of postaxial polydactyly, clubfoot, mesomelic brachymelia, and hypoplasia of distal phalanges. Choanal stenosis, redundant neck skin, hypoplastic nipples, strial septal defects, hypoplastic dermal ridges, simian creases, hyper convex nails, hypospadias, microphallus, hypertrichosis, and seizures are frequently associated. The affected patients usually die in infancy. Probably a single gene autosomal recessive disorder.