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Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Numerous studies have shown that cleft palate alone runs in most families (apart from Van der Woude syndrome) separately from cleft lip with or without cleft palate. Table 17.1 summarises the overall risks. As expected with polygenic inheritance, the presence of other affected family members considerably raises the risks. The population incidence of cleft lip (with or without cleft palate) is 1 in 500–1,000, compared with around 1 in 2,500 for isolated cleft palate. A small number of X-linked families have been documented with cleft palate and ankyloglossia, associated with mutations in TBX22. While of great interest for the developmental biology, these families do not affect the overall risk of recurrence.
Clefts and craniofacial
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Mendelian inheritance includes syndromes due to single gene defects that will be passed on within families – these may be AD (e.g. van der Woude syndrome, which is the most common CLP syndrome– CL/P, missing teeth and lip pits) and TCS (recessive or X-linked).
Cleft Lip and Palate
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
David M. Wynne, Louisa Ferguson
Non-syndromic clefting is multifactorial and is influenced by both genetic and environmental factors. Non-syndromic clefting may have a known or unknown cause. Variants of the IRF6 gene (interferon regulatory factor 6) can cause a Mendelian type inheritance, notably Van der Woude syndrome, but variants of IRF6 have also been implicated in non-syndromic orofacial clefts.7 Genome-wide association studies have provided insights into the genetic background of non-syndromic CL±P and contributing genes include aberrations in TGF-b3, NAT 1TBX22, MSX1 and FGFR.9–12
Speech feature profiles in Swedish 5-year-olds with speech sound disorder related to suspected childhood apraxia of speech or cleft palate
Published in International Journal of Speech-Language Pathology, 2022
Ann Malmenholt, Anita McAllister, Anette Lohmander, Per Östberg
Including larger numbers of children with a variety of SSDs should be prioritised in future studies, given the known overlap of several CAS speech features. This could challenge the CAS speech profile and cross-linguistic validity proposed in this study. Overdiagnosis of CAS within the general SSD population has been repeatedly reported (e.g. Murray et al., 2015; Shriberg et al., 2011). On the other hand, CAS may be underdiagnosed in children with genetic disorders, for example Down syndrome (e.g. Cleland, Wood, Hardcastle, Wishart, & Timmins, 2010). There are known conditions of combined structural and neurological aetiology (e.g. 22q11.2 deletion syndrome, Van der Woude syndrome) presenting with severe speech difficulties (Persson et al., 2002). Results from the present study with two (11%) participants with CP ± L meeting criteria for CAS could point in the same direction and co-occurring difficulties with speech motor control or even CAS should be considered and assessed in children with severely disordered speech at age 5. To further investigate this finding, studies including larger cohorts of children born with CP ± L of all types and syndromic populations are needed.
Surgical, speech, and hearing outcomes at five years of age in internationally adopted children and Swedish-born children with cleft lip and/or palate
Published in Journal of Plastic Surgery and Hand Surgery, 2020
Johnna Sahlsten Schölin, Åsa Jonasson, Jessica Axelsson, Christina Havstam, Christina Persson, Radi Jönsson, Hans Mark
Many studies have described difficulties regarding general health, malnutrition, development, and associated anomalies in IAC [10–13,26,27]. Importantly, these factors could potentially affect treatment outcomes. Swanson et al. [2] observed improvements in all growth percentiles soon after adoption. As this suggests improvements in nutritional status and well-known corresponding impacts on wound healing, the authors raised the question of whether a pre-operative catch-up growth period should be considered for IAC. This was not specifically studied in this material since larger cohorts would be necessary to draw conclusions on this issue. In this study, we encountered one adopted child with Pierre Robin sequence in the CP group. In the Swedish-born group, we observed two children with Pierre Robin sequence in the CP group and one child with Van der Woude syndrome in the UCLP. We chose to include these children since they did not affect the results. The only Swedish-born child that underwent additional surgery had Van der Woude syndrome.