Stickler syndrome, also known as hereditary progressive arthro-ophthalmodystrophy, is a group of rare genetic disorders that affect connective tissue, specifically collagen. It is classed as a subtype of collagenopathy, involving collagen types II and XI. The condition is characterised by distinctive facial abnormalities, eye problems, hearing loss, and joint and skeletal difficulties. It was first studied and characterised by Gunnar B. Stickler in 1965, and the name honours him. Because the underlying fault lies in collagen, which is found throughout the body, the features span several organ systems rather than one, which is why the entry is treated as a group of related disorders and not a single uniform disease.
Facts
Classification
Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. MedlinePlus Genetics, National Library of Medicine: Stickler syndrome
MedlinePlus Genetics, National Library of MedicineDescription: eyes
Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Description: hearing
Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Description: joints
Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
View the Source 2. Stickler syndrome (Wikipedia)
Lead section
is a group of rare genetic disorders affecting connective tissue
Lead section [first-described-year]
It was first studied and characterized by Gunnar B. Stickler in 1965.
Lead: disease category
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen.
View the Source3. National Organization for Rare Disorders (NORD): Stickler syndrome (NORD Rare Disease Database)
National Organization for Rare Disorders (NORD)sentence that gives the year the condition was first describedQuote, sentence that gives the year the condition was first described
Stickler syndrome was first described in the medical literature in 1965 by Gunnar Stickler et al., who called the disorder hereditary progressive arthro-ophthalmopathy.
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