Stickler syndrome

(redirected from Stickler syndrome, type 2)

he·red·i·tar·y pro·gress·ive ar·thro·oph·thal·mop·a·thy

a skeletal dysplasia associated with multiple dysplasia of the epiphyses, overtubulation of long bones with metaphysial widening, flattened vertebral bodies, pelvic bone abnormalities, hypermobility of joints, cleft palate, progressive myopia, retinal detachment, and deafness. Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p or COL11A2 gene on 6p.
Synonym(s): Stickler syndrome
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he·red·i·tar·y pro·gres·sive arth·ro·oph·thal·mop·a·thy

(hĕr-ed'i-tar-ē prŏ-gres'iv ahr'thrō-of-thal-mop'ă-thē)
A skeletal dysplasia associated with multiple dysplasia of the epiphyses, overtubulation of long bones with metaphysial widening, flattened vertebral bodies, pelvic bone abnormalities, hypermobility of joints, cleft palate, progressive myopia, retinal detachment, and deafness. Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p, or COL11A2 gene on 6p.
Synonym(s): Stickler syndrome.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Stickler syndrome

(stik'ler, shtik')
[Gunnar B. Stickler, German-born U.S. pediatrician 1925–]
A dominantly inherited disorder of collagen, characterized by a predisposition to myopia and retinal detachment, flattened facial features, cleft palate, a small jaw, joint disease, and hearing deficits. It is more common in Europe than in the U.S.
Synonym: hereditary arthro-ophthalmopathy
Medical Dictionary, © 2009 Farlex and Partners

Stickler,

Gunnar B., U.S. pediatrician, 1925–.
Stickler syndrome - Synonym(s): hereditary progressive arthroophthalmopathy
Medical Eponyms © Farlex 2012