The T-box transcription factor TBX22 plays an essential role in normal craniofacial development. Nonsense, frameshift, splice-site and missense mutations in this region can result in patients with X-linked cleft palate (CPX) and ankyloglossia phenotypes. The CPX phenotype observed in individuals with Abruzzo-Erickson Syndrome most likely results from a loss of protein function as severely truncated proteins can result from the introduction of a premature stop codon can result from nonsense, splice-site, or frame shift sequence changes, while missense mutations in this region have less of a structural effect on the protein, but instead interferes with DNA binding and transcriptional activity. Diagnosis
Abruzzo–Erickson syndrome can be diagnosed on the basis of a complete physical examination (as patients with the syndrome often possess noticeable physical characteristics such as a cleft palate, large protruding ears, and facial asymmetry). As the syndrome is inherited, a complete medical history is also taken, and additional assessments may be made based on the results of laboratory tests, biopsies, and imaging studies. Genetic and molecular tests such as DNA sequencing can also be used for a complete diagnosis of Abruzzo–Erickson syndrome. Treatment
There is no cure for this condition. However, children with Abruzzo-Erikson syndrome can survive into adulthood and live productive lives as long as they are treated from an early age. Many life-threatening problems may arise in these children which need to be addressed. Treatment is generally focused on addressing the specific symptoms and not the syndrome itself. Since hearing problems are common with this syndrome, it is usually the first issue addressed.
Crenated tongue is a descriptive term for the appearance of the tongue when there are indentations along the lateral borders (the sides), as the result of compression of the tongue against the adjacent teeth.The oral mucosa in the area of crenation is usually of normal color, but there may be erythema (redness) if exposed to a high degree of friction or pressure. Crenated tongue is usually asymptomatic and harmless.It is not a disease as such, but usually results from habits where the tongue is pressed against the lingual surfaces (the side facing the tongue) of the dental arches, or from any cause of macroglossia (enlarged tongue), which in itself has many causes such as Down syndrome. Where crenation is caused by parafunctional habits, there may also be associated bruxism, linea alba, or morsicatio buccarum. Society and culture
In traditional Chinese medicine, scalloping of the tongue is said to indicate qi vacuity. In some homeopathic sources, scalloping of the tongue is said to be indicative of high blood pressure. Both claims are unsupported by evidence. See also
Tongue disease

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