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At a glance

Stickler Syndrome is a hereditary progressive ophthalmo-arthropathy characterized by congenital abnormalities of the eye, micrognathia, and a cleft palate. Other clinical features include flat midface, intracranial calcifications, and deafness. More than 50% of patients affected with this condition have a mitral valve prolapse.


Marshall-Stickler Syndrome; Oculo-Skeletal Dysplasia; Progressive Hereditary Arthro-Ophthalmopathy Syndrome.


1/7,000 to 1/9,000.


There are five types of Stickler Syndrome:

  • Stickler Syndrome Type I (Stickler Syndrome Vitreous Type I; Stickler Syndrome Membranous Vitreous Type; Progressive Hereditary Arthro-Ophthalmopathy Syndrome): Caused by heterozygous mutation in the COL2A1 gene on chromosome 12q13 and is characterized by progressive myopia with an onset of age within the first 10 years, resulting in retinal detachment and blindness. Individuals affected with this type also present premature degenerative changes in various joints with abnormal epiphyseal development and slight hypermobility.

  • Stickler Syndrome Type II (Stickler Syndrome Vitreous Type II; Beaded Vitreous Stickler Syndrome Type II): Caused is caused by heterozygous mutation in the COL11A1 gene on chromosome 1p21 and characterized by the usual clinical characteristic of ocular, auditory, and orofacial features seen in Stickler Syndrome but with the architecture of an abnormal vitreous. This sign is a hallmark of this syndrome and is a prerequisite for the diagnosis.

  • Stickler Syndrome Type III (Stickler Syndrome Monocular Type): Caused by mutation in the COL11A2 gene on chromosome 6p21.32 and characterized by the usual features of Stickler Syndrome; however, the ocular signs observed with the other types (high myopia, vitreoretinal degeneration, and retinal detachment) are absent.

  • Stickler Syndrome Type IV: caused by homozygous mutation in the COL9A1 gene on chromosome 6q13. Moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Ocular vitreous degenerated due to progressive gel liquedification.

  • Stickler Syndrome Type V: caused by mutation in the COL9A2 gene on chromosome 1p34 in one affected family. Consanguineous family members have high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. No cleft palate.

Genetic inheritance

Autosomal dominant (Types 1-3) and autosomal recessive (Types 4 and 5).


Evocated by myopia in the first years of life.

Clinical aspects

Eye findings: high myopia, congenital but deteriorating in the first years of life. Total, sudden retinal detachment associated with no trauma in first decade of life. Dense, complicated cataract formation, uveitis keratopathy, and secondary glaucoma developing after retinal detachment. Joint manifestations: bony enlargement of joints at birth, especially ankles, knees, and elbows. Soreness of joints in early childhood. Progressive arthritis in early adult life. Joints mostly wrists, elbows, knees, hips, and ankles. Hypermobility of joints, particularly fingers. Orofacial: Pierre Robin Syndrome and sensorineural deafness associated in 10% of cases, ...

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