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Stickler syndrome
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Stickler syndrome

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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.

For more information, see OMIM.

Codes

ICD10CM:
Q89.8 – Other specified congenital malformations

SNOMEDCT:
78675000 – Stickler syndrome

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Last Updated: 03/29/2017
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Stickler syndrome
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Stickler syndrome : Flat nasal bridge, Hearing loss, Joint stiffness, Kyphoscoliosis, Micrognathia, Arthralgia, Cataract
Copyright © 2019 VisualDx®. All rights reserved.