Roberts syndrome is also known by many other names, including : Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, SC Syndrome ( once thought to be an entirely separate disease ), Pseudothalidomide Syndrome, Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt-Gerken-Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia-Cleft Palate Syndrome.
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They have physical abnormalities including a large head ( macrocephaly ), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion ), widened anterior fontanelles, hollow cheeks ( malar hypoplasia ), general loss of fat tissues under the skin ( lipoatrophy ), delayed tooth eruption, abnormal hair pattern ( hypotrichosis ), beaked nose, mild to severe mental retardation and dysmorphism.
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In affected members of this family with hypotrichosis were homozygous for a 2129T-G transversion in exon 14 of the DSC3 gene, resulting in a leu710-to-ter ( L710X ) ( Ayub et al . 2009 ) substitution at the junction of the transmembrane and the C-terminal cytoplasmic domain, predicted to cause premature termination and nonsense mediated decay of the mRNA or instability of the truncated protein.
