It affect cognitive function and in severe cases result in death so detection and management of this condition is critical. OSA is not correlated to severity of TCS but poses a huge health risk for individuals. OSA is caused by obstruction to the upper airways during sleep despite inspiratory effort which leads to oxygen desaturation and sleep disruption. Obstructive Sleep Apnea (OSA) is very common in people with TCS due to micrognathia and the narrowing of the airway that may be caused by hypoplasia of the mandible and zygomatic complex, cleft palate, and choanal atresia. There are several health concerns in people with TCS that result from the structural abnormalities of the head and neck. Effects of TCS are not limited to physical complications craniofacial deformities can have a huge impact on psychological well-being and social interactions. People with TCS must endure a multitude of reconstructive surgeries that are rarely fully corrective. These physical malformations also carry with them many related conditions such as airway obstruction, sleep apnea, feeding difficulties, and hearing loss. Babies born with TCS may also have Pierre Robin Sequence (PRS) which is characterized by glossoptosis, a wide U-shaped cleft palate, and micrognathia (Kummer, 2008). Many people with TCS also have both internal and external ear abnormalities which may include microtia and/or atresia, and in many cases results in a bilateral conductive hearing loss. There are also eye abnormalities including palpebral fissures, hypertelorism, and coloboma. In rare cases people may present with cleft lip and palate. Oral traits that are specific to TCS may include: decreased oral cavity dimension, pharyngeal hypoplasia, and a high arched palate, malocclusion (typically an anterior open bite), severe dysplasia of the temporomandibular joint and tooth abnormalities.Ībout 35% of people with TCS have cleft palate, and an additional 30-40% of people have velopharyngeal insufficiency (Horbelt, 2012). There are many developmental anomalies associated with TCS that are restricted to the head and neck and vary from person to person.įacial abnormalities of TCS include: hypoplasia of the facial bones, particularly the mandible and zygomatic complex, a narrow face with increased anterior facial height, micrognathia, and macrostomia. It can often occur in conjunction with the Pierre Robin Sequence. TSC occurs in 1 out of every 50,000 live births with 40% of children born with TCS having a family member with the syndrome. TCS is distributed equally across genders and races. Today’s guest post on genetic syndromes comes from Amy Locy, who is contributing an informative piece on the Treacher Collins Syndrome (TCS). Freebies Smart Speech Therapy Freebies!Įarn 10 Reward Points by commenting the blog post.The present findings underscore the utility of chromosomal microarrays in cases of PRS with associated anomalies and suggest that delaying testing for apparently isolated cases should be considered.ġ8q22 22q11.2 deletion syndrome Pierre Robin sequence Treacher Collins syndrome chromosome array chromosome disorder copy number variant genetic diagnosis stickler syndrome. Our data also indicate a higher frequency of cytogenetic anomalies in PRS patients with associated anomalies, and a potential new link with the 18q22→qter locus. We found a low frequency of 22q11.2 deletion in PRS, suggesting it is less commonly implicated in this malformation. A review of the cytogenetic anomalies identified in this population supports an association between the 4q33-qter, 17q24.3, 2q33.1, and 11q23 chromosomal loci and PRS. Chromosome arrays, performed for 72% of idiopathic PRS with associated anomalies, revealed two cases of 18q22→qter deletion, a region not previously reported in association with PRS. The frequency of 22q11.2 deletion was 1.5%. Stickler syndrome was the most common diagnosis, comprising approximately 11% of all cases, followed by Treacher Collins syndrome (9%). In our cohort 65% of patients had associated anomalies of these, a genetic diagnosis was established in 56%. The case series is complemented by a comprehensive literature review of the nature and frequency of genetic diagnosis in PRS. We performed a retrospective study of 66 patients with PRS and reviewed their genetic testing, diagnoses, and clinical findings. 22q11.2 deletion and Stickler syndrome are cited as the two most common conditions associated with PRS, but their frequencies are debated. Pierre Robin sequence (PRS) is an important craniofacial anomaly that can be seen as an isolated finding or manifestation of multiple syndromes.
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