Stickler syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Stickler syndrome (hereditary progressive arthro-ophthalmopathy) belongs to a group of genetic diseases that the connective tissue , especially collagen concern. Stickler syndrome is a subtype of collagenopathy , types II and XI. It is characterized by distinctive facial abnormalities, eye problems, hearing loss, and joint disorders. It was first described by Gunnar B. Stickler in 1965.


The symptoms of Stickler syndrome vary widely among people.

Facial changes

A distinctive feature of Stickler's syndrome is slightly flattened facial features caused by underdeveloped midface bones including the cheeks and the bridge of the nose.

Dental findings

Some of the symptoms of the Pierre Robin Sequence are common in people with Stickler syndrome. It is characterized by three symptoms

  • a too small lower jaw ( micrognathia ) with a receding chin ( retrognathia )
  • a mostly enlarged tongue shifted into the throat ( macroglossia ) with partial obstruction of the airways ( glossoptosis )
  • a U-shaped cleft palate in 60% to 80% of cases

These findings can lead to food intake problems and breathing difficulties.

Eye findings

Many people with Stickler syndrome have severe nearsightedness ( myopia ). In some cases, the lens of the eyes ( cataract ) or retinal detachment may become cloudy . Other eye problems include increased pressure in the eye ( glaucoma ). These malformations of the eyes can lead to impaired vision or, in some cases, blindness .

ENT findings

Another characteristic of Stickler syndrome is hearing loss. The degree of hearing loss varies among people and can get worse over time.

Orthopedic Findings

Most people with Stickler syndrome suffer from malformations of the skeleton , especially which are the joints affected. The joints of affected children and young adults are hypermobile. Patients often develop arthritis early , which can cause joint pain or stiffness. Spinal problems can also occur, including abnormal curvature of the spine ( scoliosis or kyphosis ) and flattened vertebrae ( platyspondyly ). These spinal abnormalities can also cause back pain.

Internal findings

Occasionally a mitral valve prolapse is diagnosed, which usually does not cause any problems and therefore does not require therapy.


Stickler syndrome is divided into five different types. In particular, the malformations of the eyes and the severity of hearing loss differ among the five types. Type I has the highest risk of retinal detachment . Type II also malformations of the eyes, type III, however, not. Types II and III are similar to type I, but more associated with hearing loss. Types IV and V are very rare and have only been diagnosed in a few individuals.

Differential diagnosis

The Oto-spondylo-megaepiphysäre dysplasia and the Marshall syndrome are similar hereditary diseases and also characterized by distinctive facial features, eye abnormalities, hearing loss and early onset arthritis. In the case of Marshall syndrome, in contrast to Stickler syndrome, short stature can also occur. It can be assumed that Marshall syndrome is not a variant of Stickler syndrome, but is classified as a separate disease.

Genetic causes

Mutations in the genes COL2A1 , COL11A1 , COL11A2 , COL9A1 and COL9A2 cause Stickler syndrome types I to V. Mutations in the COL11A1 gene are held responsible for Marshall syndrome.


Stickler syndrome is believed to be the most common syndrome in the United States and Europe, but it is the least likely to be diagnosed. Most sufferers have symptoms so mild that the condition goes undiagnosed. It is believed that there is around one disease for every 7500-9000 births.

Individual evidence

  1. GB Stickler, PG Belau: Hereditary Progressive Arthro-Ophthalmopathy ". Mayo Clin Proc. (1965); 40, pp. 433-455. PMID 14299791 .
  2. ^ Stickler Syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. In: The Eye. (2011); 25, pp. 1389-1400. doi: 10.1038 / eye.2011.201 .
  3. Stickler Syndrome on German-here-it
  4. GB Stickler, W. Hughes, P. Houchin: Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. In: Genetics in medicine: official journal of the American College of Medical Genetics. Volume 3, Number 3, 2001 May-Jun, pp. 192-196, ISSN  1098-3600 . doi: 10.1097 / 00125817-200105000-00008 . PMID 11388760 .
  5. ^ A b Nathaniel H Robin, Rocio T Moran: Stickler Syndrome. PMID 20301479 .
  6. MARSHALL SYNDROME; MRSHS ..  In: Online Mendelian Inheritance in Man . (English)