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.
Correction of some abnormalities can be corrected with the use of extensive multidisciplinary craniofacial surgery. Physical therapy and occupational therapy are important to ensure they can live a normal and productive life. Monitoring the heart for defects is also common and there are medications to educe this risk or surgery is available to correct some of conditions. Epidemiology
Abruzzo-Erickson Syndrome is an extremely rare condition, prevalent among less than one in a million of individuals. As of 2021, only four cases have been characterized in literature. See also
CHARGE syndrome

References
External links
Abruzzo–Erickson syndrome at NIHs Office of Rare Diseases