3C syndrome

A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

“…Because of craniofacial similarities between our patients and those described by Khalifa et al 9 and Craft et al ,10 molecular analyses of KIAA0196 in their patients is indicated. The study of additional patients will help to elucidate the clinical and possible genetic variability of RSS.…”

“…Because RSS/3C has been described in individuals from different populations, and because phenotypic variability (even among affected siblings) is well documented, Leonardi et al 8 attempted to define minimum diagnostic criteria by reviewing 28 selected RSS cases. Even though cardiac (primarily septal defects) and cerebellar anomalies (primarily Dandy–Walker malformation or Dandy–Walker variant) occurred in approximately 80% of patients, Leonardi et al 8 concluded that the pattern of craniofacial features can be an important diagnostic tool, a sentiment recently echoed by Craft et al 10…”

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

“…Therefore the pattern of craniofacial dysmorphic features is crucial in ascertaining the diagnosis. 2,3 A recent study of a cohort of affected individuals of the First Nation community in northern Manitoba, Canada, an isolate, identified homozygous sequence variants affecting the KIAA0196 gene, which encodes the WASH (Wiskott-Aldrich Syndrome Protein and SCAR Homolog) complex protein strumpellin as causal to a form of RSS/3C syndrome. 2 Here we present a study of an Austrian family with two affected male children.…”

Ritscher–Schinzel (cranio‐cerebello‐cardiac, 3C) syndrome: Report of four new cases with renal involvement

“…In reviewing the differential diagnosis in this family, it is worth mentioning that Stevenson and Carey [2007] reported an apparently novel syndrome with significant resemblance to 3C syndrome but the distinct facial appearance and camptodactyly were thought to set their autosomal recessive syndrome apart. The dilemma of whether this is truly distinct from 3C syndrome was discussed by Craft et al [2010] who reported two additional cases. In the absence of molecular confirmation, it can be argued that the two conditions are in fact one with variable expressivity, and we propose that our patients better fit the 3C category, at least according to its current definition.…”