XVII: Congenital malformations, deformations and chromosomal abnormalities

Q10-Q18: Congenital malformations of eye, ear, face and neck

Congenital malformations of the eye, ear, face, and neck encompass a broad range of conditions that are present at birth that affect these areas. They are typically caused by genetic factors, parental exposure to environmental risks during pregnancy, or complications during the gestational period. Symptoms can be wide-ranging, with some individuals experiencing minor visual or auditory complications, while others face significant challenges with facial structure or neck function. Conditions include various types of birth defects of the eye, such as cataracts, glaucoma, or squint; ear deformities that can affect hearing; and abnormalities of the face and neck, like cleft lip and palate or congenial neck cysts. How the conditions present and progress over time can vary significantly on a case-by-case basis. Regardless of the specific malformation, these conditions generally involve essential systems such as vision, hearing, speech, and breathing functions. This highlights the importance of early detection and management to ensure optimal development and quality of life for the affected individual.