| Abstract/Notes |
Witteveen-Kolk Syndrome (WITKOS) is a rare genetic disorder that shows mutations in the SIN3A gene. It has been labeled as a neurodevelopmental syndrome and as of 2020, around 40 individuals with WITKOS have been identified with a 1:1 male to female ratio.1 There are several ways that WITKOS may present, including intellectual disabilities (mild to moderate), developmental delays, short stature and dysmorphic facial features that may include a broad high forehead, long face, depressed nasal bridge, small mouth, malformed ears and a high palate.1,2 The SIN3A gene is a switch receptor for micro deletions. These patients may present with latching and feeding difficulties, behavioral issues, hyperlaxity in the joints and hypotonicity of their muscles.
Author keywords: Witteveen-Kolk Syndrome (WITKOS), SIN3A gene, intellectual disabilities, feeding difficulties, behavioral issues
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