Stickler syndrome

Stickler syndrome is an inherited connective-tissue disorder, usually caused by variants in collagen genes. It can affect vision, hearing, joints, and facial development.

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Type II collagen: A fibrillar collagen found chiefly in cartilage and the vitreous humor of the eye. Variants in COL2A1, which encodes this collagen, cause the most common form of Stickler syndrome.
Retinal detachment: Separation of the retina from the underlying tissue that supports it. Vitreous abnormalities in Stickler syndrome raise the risk of retinal tears and detachment.
Pierre Robin sequence: A developmental sequence involving a small lower jaw, backward tongue position, and often a cleft palate. It can occur in Stickler syndrome and may be the first feature recognized in infancy.
Gunnar Stickler: An American physician who described the syndrome that bears his name. His clinical observations brought together the familial eye, hearing, joint, and facial findings.
Variable expressivity: Variation in the severity or features of a genetic condition among people with the same disease-causing variant. People in one Stickler syndrome family can have markedly different complications.
Type XI collagen: A fibrillar collagen that helps organize collagen networks in cartilage and the vitreous humor. Variants in COL11A1 or COL11A2 can produce Stickler syndrome phenotypes.
Vitreous anomaly: An abnormality of the gel-like material filling the eye between the lens and retina. Characteristic vitreous changes can help identify Stickler syndrome and guide retinal monitoring.
Marshall syndrome: A rare inherited disorder with facial, eye, hearing, and skeletal features, often linked to COL11A1 variants. Its overlap with Stickler syndrome illustrates how collagen-gene disorders can be difficult to distinguish.
David W. Smith: An American pediatrician and dysmorphologist known for describing congenital syndromes. He and colleagues helped characterize the condition initially called hereditary progressive arthro-ophthalmopathy.
Genotype–phenotype correlation: The relationship between genetic variants and observable traits or disease features. More precise correlations could improve predictions of ocular, auditory, and skeletal outcomes.