Stickler Syndrome, Type Iv (STL4)

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OMIM 57 614134 MedGen 42 C3279941 C1852831 MeSH 44 D003240

SNOMED-CT via HPO 69 258211005 60700002 82649003 254080004 299330008 237836003 34187009 234119001 272118002 90734009 19939008 more UMLS 73 C3279941

UniProtKB/Swiss-Prot : ⁷⁵ 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 bone, tongue and eye, and related phenotypes are genu valgum and sensorineural hearing impairment

Description from OMIM: 614134

Clinical features from OMIM:

614134

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