Disorders of the Head & Neck

Craniofacial disorders, such as congenital malformations of the skull and face and craniosynostosis (premature fusion of certain skull bone sutures), can be seen in various genetic syndromes. Cleft lip and/or palate (congenital abnormalities where the face, lip and mouth don’t fuse properly) can lead to difficulty with feeding, speech and hearing and can be associated with a variety of genetic syndromes. Features of hearing impairment can be found in certain rare genetic syndromes, some of which can cause malformations of the ears and kidneys, deafness, heart defects, skeletal abnormalities, growth retardation, and vestibular, neurologic and thyroid dysfunction.

Vision impairment can be seen in various rare genetic conditions and syndromes, some of which can cause progressive vision loss and blindness due to retinal cell damage. It can also be associated with other organ system abnormalities. Various eye malformations can be seen in specific rare genetic syndromes, some of which can be associated with abnormal eye development. These deformations can result in small eyes, the appearance of a cat’s eye, malposition of the lens, absence of the iris, visual impairment and droopy eyelids, and can also be associated with a small head size (microcephaly), short stature and abnormalities of the heart and kidney.

Receiving a diagnosis of a disorder of the head and neck, or being at risk for or suspected of having one, can feel overwhelming, but learning more about the diagnosis can help you navigate treatment and care. Visit the links below to learn more about some of the different types of rare disorders, their causes, and associated symptoms as well as screening and treatment options. This list includes a selection of disorders of the head and neck. Schedule a consultation with us for diagnosis and treatment options for these or any other rare conditions.