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Czeizel syndrome, also known as Lethal omphalocele-cleft palate syndrome, is a rare dysmorphic syndrome characterized by a cleft lip, a bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and Hydrocephalus internus. [1]
Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD(14). [2] The signs of this syndrome are oligohydramnios, intrauterine growth restriction, small placenta, low birth weight and length, hypotonia, motor and speech delay, joint laxity, clinodactyly, kyphoscoliosis, precocious puberty, obesity and the facial signs are ...
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“The uvula is the punching bag located at the back of the soft palate, and helps to close off the upper throat from the lower throat during swallowing and speech,” says Craig Zalvan, M.D ...
The cranial dysmorphisms associated with 3C syndrome are heterogeneous and include a degree of macrocephaly, a large anterior fontanel, a particularly prominent occiput and forehead, ocular hypertelorism (wide-set eyes), slanted palpebral fissures, cleft palate, a depressed nasal bridge, cleft palate with associated bifid uvula, [2] low-set ...
A bifid or bifurcated uvula is a split or cleft uvula. Newborns with cleft palate often also have a split uvula. The bifid uvula results from incomplete fusion of the palatine shelves but it is considered only a slight form of clefting. Bifid uvulas have less muscle in them than a normal uvula, which may cause recurring problems with middle ear ...
Loeys–Dietz syndrome can cause cleft palate or bifid uvula, hypertelorism, and aortic aneurysm. [42] Hardikar syndrome can cause cleft lip and palate, Hydronephrosis, Intestinal obstruction and other symptoms. [43] Cleft lip/palate may be present in many different chromosome disorders including Patau syndrome (trisomy 13).
To check the uvula, a tongue blade is pressed down on the patient's tongue and the patient is asked to say "ah"; the uvula should look like a pendant in the midline and rise along the soft palate. Abnormal findings include deviation of the uvula from the midline, an asymmetrical rise of the soft palate or uvula and redness of either.