An acronym for the set of unusual congenital features seen in a number of newborn
children. The letters stand for:
coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and
deafness. These features are no longer used in making a diagnosis of
CHARGE syndrome, but the name remains. CHARGE syndrome is the leading cause of congenital
deafblindness.
Used to describe people with hearing loss, especially when it is severe or profound (unable to hear anything below 70Db).
It presents with uncontrollable muscle spasms triggered by incorrect signals from the brain, which can, for some, be painful. It is the 3rd most common movement disorder.
Dystonia can affect any region of the body including the eyelids, face, jaw, vocal cords, torso, limbs, hands, and feet. It presents differently depending on the region of the body affected and each type has its own clinical name.
We use this term to describe people with mild to moderate hearing loss (unable to hear sounds between 25dB and 69Db). We quite often apply this term to people who are losing their hearing gradually due to age.
A neoplasm is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called
neoplasia.
Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, each condition presents differently. Symptom' include at least two growths on the eye's iris.
Sarcoidosis (also known as Besnier–Boeck–Schaumann disease) is a disease involving abnormal collections of inflammatory cells that form lumps known as granulomata. The disease usually begins in the lungs, skin, or lymph nodes. Less commonly affected are the eyes, liver, heart, and brain, though any organ can be affected.
Sjögren's syndrome is a condition that affects parts of the body that produce fluids, like tears and spit (saliva).
Toxoplasmosis is a common infection from which most patients make a full recovery. However in more serious cases it can spread to the eyes causing loss of sight.
