nerosmall.blogg.se - Charge syndrome

Other criteria include orofacial cleft, distinctive facial appearance, tracheoesophageal fistula, limb abnormalities, and rarely, immune deficiencies. and further modified by Verloes, who highlighted the importance of the 3C triad (coloboma, choanal atresia, abnormal semicircular canals).

Diagnosis is now made using criteria proposed by Blake et al. Pagon first described the cardinal anomalies such as coloboma, choanal atresia, heart defects, genital abnormalities, retarded growth, and ear malformation and coined the term CHARGE syndrome. The features of CHARGE syndrome were first described independently by Hall and Hittner, and hence, it was initially called Hall-Hittner syndrome. Review the importance of collaboration and communication amongst the interprofessional team to enhance the delivery of care for patients affected by CHARGE syndrome.ĬHARGE syndrome is a rare, autosomal dominant genetic disorder commonly diagnosed during the prenatal or neonatal period due to the identification of numerous dysmorphic and congenital anomalies.

Summarize the important aspects of medical and surgical management of CHARGE syndrome, including occupational, physical, and speech therapy.

Outline the typical presentation and most common physical examination findings associated with CHARGE syndrome.

Explain the etiology and describe the pathophysiology of CHARGE syndrome.

This activity reviews the pathophysiology, evaluation, and treatment of CHARGE syndrome and highlights the role of the interprofessional team in managing patients and counseling families of patients with this syndrome. CHARGE syndrome can have high morbidity, but the morbidity can be minimized by early diagnosis and treatment. CHARGE syndrome is an acronym for coloboma, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies, and ear malformations and hearing loss. CHARGE syndrome is an inherited disorder caused by a mutation in the DNA-binding protein-7 CHD7 gene.