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SynopsisCodesBest TestsReferences
Stickler syndrome
Other Resources UpToDate PubMed

Stickler syndrome

Other Resources UpToDate PubMed

Synopsis

A rare, inherited, multiple system connective tissue disorder of ocular, auditory, orofacial, and skeletal abnormalities due to mutations in the COL2A1 (Type1), COL11A1 (Type 2), and COL11A2 (without ocular signs, Type 3) genes. These mutations cause collagen coding abnormalities. Ocular findings include myopia, detached retina, and cataract. Hearing disorders include sensorineural and conductive hearing loss. Orofacial dysmorphism includes cleft palate and midface dysplasia. Skeletal abnormalities include precocious arthritis and mild spondyloepiphyseal dysplasia.

Codes

ICD10CM:
Q89.8 – Other specified congenital malformations

SNOMEDCT:
78675000 – Stickler syndrome

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Last Updated:03/24/2022
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Stickler syndrome
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A medical illustration showing key findings of Stickler syndrome : Flat nasal bridge, Hearing loss, Joint stiffness, Kyphoscoliosis, Micrognathia, Arthralgia, Cataract
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