Stickler Syndrome, Type II

Alternative Names

  • STL2
  • Stickler Syndrome, Vitreous Type 2
  • Stickler Syndrome, Beaded Vitreous Type
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

604841

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1p21.1

Description

Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis. [From OMIM]

Stickler syndrome type II (STL2) is associated with heterozygous mutations in COL11A1  gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604841.1Saudi ArabiaMaleYes Flat faceNM_001854.4:c.1945-1G>CHeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
604841.2Saudi ArabiaMaleYes Tractional retinal detachmentNM_001854.4:c.2241+5G>THeterozygousAutosomal, DominantMaddirevula et al. 2018
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