STICKLER SYNDROME

What is Stickler syndrome?
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.
A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called Robin sequence, is common in children with Stickler syndrome. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue, and a small lower jaw. This combination of features can lead to feeding problems and difficulty breathing.
Many people with Stickler syndrome have severe nearsightedness (high myopia). In some types of this condition, the jelly-like substance within the eye (the vitreous) has an abnormal appearance. Other eye problems are also common, including increased pressure within the eye (glaucoma) and tearing of the lining of the eye (retinal detachment). These eye abnormalities can cause impaired vision or blindness in some cases.
Hearing loss is another feature of Stickler syndrome. The degree of hearing loss varies among affected individuals, and the loss may become more severe over time.
Most people with Stickler syndrome have skeletal abnormalities that affect the joints. For example, the joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness.
Researchers have described three types of Stickler syndrome, which are distinguished by their genetic cause and their characteristic signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. One type, often called non-ocular Stickler syndrome, does not affect the eyes.
Like Stickler syndrome, a condition called Marshall syndrome is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Whether Marshall syndrome represents a variant form of Stickler syndrome or a separate disorder is controversial.