Based on the mutated gene, this entity has been classified in 4 types that are related to the ophthalmological phenotype. There is wide variation in clinical expression and, although clinical diagnostic criteria have been proposed, the diagnosis remains genetic. The differential diagnosis includes other connective tissue diseases with similar signs and symptoms. Because there is no etiological treatment, symptomatic, and frequently surgical treatment, are the only options. Fue descrito en por Gunnar B. Se ha estimado que su incidencia aproximada es de 1 caso cada

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VCAN-related vitreoretinopathy , which includes Wagner syndrome and erosive vitreoretinopathy, is characterized by "optically empty vitreous" on slit lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal traction and retinal detachment at advanced stages of the disease, and reduced visual acuity.

Optic nerve inversion has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years. VCAN-related vitreoretinopathy is inherited in an autosomal dominant manner. Nonsyndromic congenital retinal nonattachment NCRNA OMIM comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus in otherwise normal individuals.

Snowflake vitreoretinal degeneration OMIM is characterized by cataract, fibrillar degeneration of the vitreous, and peripheral retinal abnormalities including minute, shiny crystalline-like deposits resembling snowflakes.

Individuals show a low rate of retinal detachment [ Lee et al ]. Snowflake vitreoretinal degeneration is caused by pathogenic variants in KCNJ13 and inherited in an autosomal dominant manner. Binder syndrome maxillonasal dysplasia OMIM is characterized by midface retrusion and absence of the anterior nasal spine on radiographs. While some families with vertical transmission have been reported [ Roy-Doray et al ], Binder syndrome is not considered a genetic syndrome, but rather a nonspecific abnormality of the nasomaxillary complex.

Robin sequence. Approximately half of all individuals with Robin sequence have an underlying syndrome, of which Stickler syndrome is the most common. In one study, 34 of individuals with Robin sequence had Stickler syndrome. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Stickler syndrome, the following evaluations are recommended: Evaluation of palate by a craniofacial specialist Baseline ophthalmologic examination Baseline audiogram Directed history to elicit complaints suggestive of mitral valve prolapse MVP , such as episodic tachycardia and chest pain.

If symptoms are present, referral to a cardiologist should be made. Infants with Robin sequence need immediate attention from specialists in otolaryngology and pediatric critical care, as they may require tracheostomy to ensure a competent airway. It is recommended that evaluation and management occur in a comprehensive craniofacial clinic that provides all the necessary services, including otolaryngology, plastic surgery, oral and maxillofacial surgery, pediatric dentistry, orthodontics, and medical genetics.

In most individuals, micrognathia tends to become less prominent over time, allowing for removal of the tracheostomy. However, in some individuals, significant micrognathia persists, causing orthodontic problems.

In these individuals, a mandibular advancement procedure is often required to correct the malocclusion. Refractive errors should be corrected with spectacles. Individuals with Stickler syndrome should be advised of the symptoms associated with retinal detachment and the need for immediate evaluation and treatment when such symptoms occur. Otitis media may be a recurrent problem secondary to palatal abnormalities.

Myringotomy tubes are often required. Treatment of arthropathy is symptomatic and includes using over-the-counter anti-inflammatory medications before and after physical activity. Prevention of Secondary Complications Individuals with mitral valve prolapse may need antibiotic prophylaxis for certain surgical procedures.

Surveillance Annual examination by a vitreoretinal specialist is appropriate. Follow-up audiologic evaluations are appropriate every six months through age five years, and annually thereafter. While the prevalence of mitral valve prolapse MVP among affected individuals is unclear, all individuals with Stickler syndrome should be screened for MVP through routine physical examination.

More advanced testing e. At present, no prophylactic therapies to minimize joint damage in affected individuals exist. Some physicians recommend avoiding physical activities that involve high impact to the joints in an effort to delay the onset of the arthropathy. While this recommendation seems logical, there are no data to support it. Evaluation of Relatives at Risk Because of the variable expression of Stickler syndrome [ Faber et al ], it is appropriate to evaluate the older and younger sibs of a proband as well as other at-risk relatives in order to identify those who warrant ongoing evaluation see Surveillance.

Evaluation can be done in one of two ways: By documenting medical history and performing physical examination and ophthalmologic, audiologic, and radiographic assessments. The examination of childhood photographs may be helpful in the assessment of craniofacial findings of adults, since the craniofacial findings characteristic of Stickler syndrome may become less distinctive with age.

By molecular genetic testing if the pathogenic variant s in the family are known It is recommended that relatives at risk in whom the diagnosis of Stickler syndrome cannot be excluded with certainty be followed for potential complications.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. Note: There may not be clinical trials for this disorder. Genetic Counseling Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. A proband with Stickler syndrome may have the disorder as the result of a de novo pathogenic variant.

The proportion of cases caused by a de novo pathogenic variant is not known. It is appropriate to evaluate both parents of a proband for manifestations of Stickler syndrome see Management and, if a pathogenic variant has been identified in the proband, offer molecular genetic testing.

If the pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, possible explanations include a de novo pathogenic variant in the proband or germline mosaicism in a parent. Though theoretically possible, no instances of germline mosaicism have been reported. Sibs of a proband. No instances of germline mosaicism have been reported, although it remains a theoretic possibility. Offspring of a proband.

Other family members. Heterozygotes carriers are asymptomatic and are not at risk of developing the disorder. Carrier Heterozygote Detection Carrier testing for at-risk relatives requires prior identification of the pathogenic variants in the family. Related Genetic Counseling Issues See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Considerations in families with an apparent de novo pathogenic variant. When neither parent of a proband with an autosomal dominant condition has the pathogenic variant identified in the proband or clinical evidence of the disorder, the pathogenic variant is likely de novo. However, non-medical explanations including alternate paternity or maternity e. Family planning The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.

It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affected , are carriers, or are at risk of being carriers. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Once the pathogenic variant s in a family with Stickler syndrome have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.

Ultrasound evaluation. Absence of a cleft palate, however, does not exclude the diagnosis of Stickler syndrome. Low-risk pregnancies. For fetuses with no known family history of Stickler syndrome, but in which cleft palate is detected prenatally, it is appropriate to obtain a three-generation pedigree and to evaluate relatives who have findings suggestive of Stickler syndrome. Molecular genetic testing of the fetus is usually not offered in the absence of a known pathogenic variant in a parent.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis.

While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate. GeneReviews is not responsible for the information provided by other organizations.

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Schon im Kinderalter zeigt sich das Stickler-Syndrom. Die Erkrankung ist autosomal-dominant. Ursachen Erstmals hat der deutsche Kinderarzt Gunnar B. Stickler im Jahr vom Stickler-Syndrom gesprochen. Betroffen sind vor allem die Gelenke. Oft wird das Stickler-Syndrom auch mit dem Marshall-Syndrom verwechselt. Allerdings sind beim Marshall-Syndrom andere Gene von der Mutation betroffen.


Síndrome de Stickler



Syndrome de Stickler



Síndrome de Stickler


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