Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear. In people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. These eye abnormalities cause impaired vision or blindness in some cases. Other eye problems are also common, including increased pressure within the eye ( glaucoma ), clouding of the lens of the eyes ( cataracts ), and tearing of the lining of the eye ( retinal detachment ). In some cases, the clear gel that fills the eyeball (the vitreous ) has an abnormal appearance, which is noticeable during an eye examination. Many people with Stickler syndrome have severe nearsightedness (high myopia ), which means they have trouble seeing things that are far away. This combination of features can lead to feeding problems and difficulty breathing. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate ), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw ( micrognathia ). A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. These signs and symptoms vary widely among affected individuals.Ī characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
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