SINDROME DE STICKLER PDF
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. 1 Aug Variante genética del síndrome de Stickler. Article (PDF Available) in Archivos de la Sociedad Espanola de Oftalmologia 93(3) · September.
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There is wide variation in clinical expression and, although clinical diagnostic criteria have been proposed, the diagnosis remains genetic.
OMIM Entry – # – STICKLER SYNDROME, TYPE I; STL1
stuckler Skeletal manifestations are early-onset arthritis, short stature relative to unaffected sibs, and radiographic findings consistent with mild spondyloepiphyseal dysplasia. Clinical Characteristics Clinical Description Stickler syndrome is a multisystem connective tissue disorder that can affect the craniofacies, eyes, inner ear, skeleton, and joints.
Neonatal radiologic signs of the Weissenbacher-Zweymuller syndrome were also noticed. These forms of Stickler syndrome are autosomal dominant. Analysis of the coding region of COL9A1 showed homozygous nonsense variants in the affected individuals in three families with autosomal recessive Stickler syndrome [ Van Camp et xeNikopoulos et al ].
Early-onset arthritis is common and may be severe, leading to the need for surgical joint replacement even as early as the third or fourth sinfrome. This appears to be reflected in the variability of lamellar bundle organization seen on slit-lamp examination of the vitreous. Variable phenotypic expression of Stickler syndrome occurs both within and shickler families; interfamilial variability sticklr in part explained by locus and allelic heterogeneity.
Related Genetic Counseling Issues See Management, Evaluation of Relatives at Risk for information on sindromw at-risk relatives for the purpose of early diagnosis and treatment. Other, as yet unknown, genes may also cause Stickler syndrome because not all individuals with the condition have stic,ler in one of the three identified genes. The father, aged 24 years, was blind from age 9 years from glaucoma, cataracts, and recurrent retinal detachments, and was cm tall, with ‘stiffness’ of his legs.
Sequence analysis of the coding region of COL9A2 showed homozygosity for the pathogenic variantc. These genes are involved in the production of type II and type XI collagen. The former produce a characteristic congenital ‘membranous’ anomaly of the vitreous; the COL11A1 mutations produce a different ‘beaded’ vitreous phenotype. The diagnosis of Stickler syndrome was made on the basis of ocular lesions mainly retinal detachment in sinerome congenital myopia and vitreoretinal degeneration and nonocular lesions.
Amplification of the COL2A1 3-prime variable region used for segregation analysis in a family with the Stickler syndrome. For an introduction to comprehensive genomic testing click here.
The diagnosis of Stickler syndrome is clinically based. Learning difficulties, not intelligence, can also occur because of hearing and sight impairments if the school is not informed and the student is not assisted within the learning environment. The family was a large Minnesota kindred which had been examined at the Mayo Clinic as early as by Dr.
Based on the mutated gene, this entity has been classified in 4 types that are related to the ophthalmological phenotype. Stickler syndrome caused by COL2A1 mutations: The manifestations were similar to those of the original Stickler syndrome family Stickler et al. Prevalence of mitral valve prolapse in Stickler syndrome. It is recommended that relatives at risk in whom the diagnosis of Stickler syndrome cannot be excluded with certainty be followed for potential complications.
Stickler syndrome – Wikipedia
The jelly-like substance within the eye the vitreous humour has a distinctive appearance in the types of Stickler syndrome associated with the COL2A1 and COL11A1 genes. Check this stickper if you wish to receive a copy of your message. Molecular diagnosis of Stickler syndrome: CC ]. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are sindtome.
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Hypochondrogenesis a more mild variant of achondrogenesis. Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.
Type IX collagen is a structural component of hyaline cartilage, vitreous of the eye and intervertebral disc. A recurrent RC mutation Treatment of arthropathy is symptomatic and includes using over-the-counter anti-inflammatory medications before and after physical activity.
More advanced testing e. Stickler syndrome, type II. MedGen Related information in MedGen. Osteoarthritis with mild chondrodysplasia OMIM While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
Ocular anomalies in malformation syndromes. Activities such as contact dtickler that may lead to traumatic retinal detachment. It was suggested that among those with Stickler syndrome, the prevalence of MVP may be similar to that in the general population.
Clear Turn Off Turn On. Prenatal diagnosis is feasible for families in which the disease-causing mutation has been identified.
Although inter- and intrafamilial variation was observed among 25 individuals from six families with the same molecular diagnosis [ Liberfarb et al ], some generalities can be made regarding genotype – phenotype correlation:. Hereditary arthro-ophthalmopathy the Stickler syndrome: Vitreous changes or retinal abnormalities lattice degeneration, retinal hole, retinal detachment or retinal tear. Evaluation can be done in one of two ways:. Directed history to elicit complaints suggestive of mitral valve prolapse MVPsuch as episodic tachycardia and chest pain.
Using this method, Freddi et al. Linkage to COL2A1 was excluded in the 2 remaining families. In 6 families there was linkage of the phenotype to COL2A1.