Stickler Syndrome, Type Iv (STL4)

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OMIM® 57 614134 OMIM Phenotypic Series 57 PS108300 MeSH 44 D003240

MedGen 41 C1852831 C3279941 SNOMED-CT via HPO 68 237836003 254080004 258211005 299330008 34187009 60700002 82649003 more UMLS 70 C3279941

UniProtKB/Swiss-Prot : ⁷² Stickler syndrome 4: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

MalaCards based summary : Stickler Syndrome, Type Iv, is also known as stickler syndrome, type 4. An important gene associated with Stickler Syndrome, Type Iv is COL9A1 (Collagen Type IX Alpha 1 Chain). Affiliated tissues include tongue, and related phenotypes are sensorineural hearing impairment and genu valgum

More information from OMIM: 614134 PS108300

Clinical features from OMIM®:

614134 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Stickler Syndrome, Type Iv

Search GEO for disease gene expression data for Stickler Syndrome, Type Iv.