Stickler Syndrome

Summarized by Plex Health
Last Updated: 09 May 2022

Stickler syndrome, often called Stickler dysplasia, is a hereditary disorder impacting connective cells in your face, joints, eyes, and ears. Stickler syndrome commonly impacts the connective tissue of the eye, particularly in the inside of the eyeball, the specialized tissue that works as a barrier or cushion for bones at joints and completions of the bones that compose the joints of the body. The inheritance pattern for Stickler syndrome type I is autosomal leading. A specific group of physical features called Pierre Robin sequence is additionally common in people with Stickler syndrome. Lots of people with Stickler syndrome have extreme nearsightedness. In people with Stickler syndrome, hearing loss varies in level and may become more severe in time. The majority of people with Stickler syndrome have skeletal irregularities that impact the joints. Type II additionally includes eye abnormalities, but type III does not. Types II and III are more probable than type I to have considerable hearing loss. Marshall syndrome can additionally include brief stature. The specific symptoms present in Stickler syndrome commonly differ significantly from one person to another. Among the first signs in Stickler syndrome is nearsightedness, in which items nearby are seen plainly yet objects that are away show up blurry. Lots of people with Stickler syndrome are detected as a child or child. If somebody else in your family has it, you're at higher risk of Stickler syndrome. Stickler syndrome occurs when there's a mutation to among the genes that helps develop collagen. Collagen is a protein that essentially aids hold your body together. Stickler syndrome symptoms are different for every person. Many children with Stickler syndrome have similar facial deformities, such as: Cleft taste buds; A flattened confront with a small nose; Micrognathia.

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