Weillmarchesani syndrome weillmarchesanis syndrom engelsk definition. Weillmarchesani syndrome wms is a rare and genetically heterogeneous connective tissue disorder that presents with musculoskeletal abnormalities, including proportionate short stature, short digits, joint contractures, a progressively thickening of the skin, and eye abnormalities, such as lens dislocation and microspherophakia 1,4,5. The disease is genetically determined with both autosomal dominant and recessive inheritance modalities and exhibit. Adamts10 mutations in autosomal recessive weillmarchesani syndrome am j. This report does not contain any personal information that could lead to the identification of the patient.
Functional variants in adamts10 are associated with weillmarchesani syndrome1. Weillmarchesani syndrome wms is a rare systemic disorder with both autosomal recessive and dominant inheritances. Weill marchesani syndrome in mother and son weill marchesani syndrome in mother and son y oung, i. A shortage of the adamts10 enzyme also interferes with the development and function of the lens of the eye, causing eye abnormalities and impaired vision. Identification and molecular characterisation of a. A 35yearold woman presented with painful decreased vision in both eye over 3 months. Adult height for men ranges from 4 feet, 8 inches to 5 feet, 6 inches or 142169 cm and adult height for women ranges from 4 feet, 3 inches to 5 feet, 2 inches or 157 cm. Access to this free content requires users to be registered and logged in. Weillmarchesani syndrome wms is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet brachydactyly. Weillmarchesani syndrome genetics home reference nih. Weillmarchesani syndrome wms is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby hands and. Weillmarchesani syndrome with advanced glaucoma and. Acute glaucoma is a wellknown complication of the weill marchesani syndrome.
Weill marchesani syndrome is an extremely rare genetic pathological condition of the connective tissues which is characterized as mainly ocular abnormalities with abnormalities of the lens along with an abnormally short stature, an extremely broad head, and joint stiffness. Weillmarchesani syndrome is characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head brachycephaly and joint stiffness. The patient was diagnosed with weillmarchesani syndrome. Weill marchesani read more weill marchesani syndrome wms is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, severe myopia, glaucoma, and microspherophakia. Weillmarchesani syndrome autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities upload media. Tumour necrosis factor alpha, lipid peroxidation and no are. A 37yearold male patient visited our clinic for ocular pain with elevated intraocular pressure 1957 mmhg. Weillmarchesani syndrome with secondary angle closure glauc. Marchesani syndrome consists essentially of shortness of stature, spherophakia and other eye abnormalities and brachydactyly. Weillmarchesani syndrome with bilateral angleclosure glaucoma. A patient presented with advanced glaucoma with an intraocular pressure of 49 mmhg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure. Angleclosure glaucoma was induced by miosis or topical application of 1 % pilocarpine hydrochloride in an adult who had marchesani syndrome. Consent to publish the case including patients clinical photographs was obtained. The treatment of weillmarchesani syndrome is directed toward the specific symptoms.
Autosomal dominant transmission of mutations of the fbn1 gene on 15q21. A mutation in the fbn1 gene has also been found to cause weillmarchesani syndrome. This protein is needed to form threadlike filaments, called microfibrils, that help provide strength and flexibility to connective tissue. Pathophysiology disruption or dysfunction of the zonular fibres of the lens, regardless of cause trauma or heritable condition, is the underlying pathophysiology of ectopia lentis. Other symptoms include brachydactyly and short stature. Weillmarchesani syndrome in mother and son, clinical.
Adamts10 mutations in autosomal recessive weill marchesani syndrome am j hum genet 2004. Weill marchesani syndrome nord national organization. Corneal microstructural analysis in weillmarchesani. Know the causes, symptoms, treatment of weill marchesani syndrome. Weillmarchesani syndrome wms is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, severe myopia, glaucoma, and microspherophakia. Weillmarchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including. The fbn1 gene provides instructions for making a protein called fibrillin1. Weillmarchesani syndrome wms, also called mesodermal dysmorphodystrophy, is a systemic connective tissue disorder related to the altered encoding for protein of extracellular matrix with fibrous tissue hyperplasia 1 dagoneau n, benoistlasselin c, huber c, et al. Glaucoma services, advanced eye centre, postgraduate institute of medical education and research, chandigarh, india 160012. Additionally, some patients have cardiac valvular abnormalities. The slitlamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated. The authors describe a case of acute angleclosure glaucoma in a highly myopic patient secondary to weillmarchesani syndrome wms and histopathologic features of his lens.
Weill marchesani syndrome wms is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma. Weillmarchesani syndrome genetic and rare diseases nih. Weill marchesani syndrome wms is a rare and genetically heterogeneous connective tissue disorder that presents with musculoskeletal abnormalities, including proportionate short stature, short digits, joint contractures, a progressively thickening of the skin, and eye abnormalities, such as lens dislocation and microspherophakia 1,4,5. To report the diagnostic features and management strategy of a rare case of weillmarchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. Corneal microstructural analysis in weillmarchesani syndrome by in vivo confocal microscopy anna m roszkowska, pasquale aragona ophthalmology section, department of surgical specialties, university of messina, italy. Some heterozygotes for ar wms present with some mild clinical manifestations of the disease, such as brachydactyly. It was named after ophthalmologists georges weill 18661952 and oswald. Weill marchesani syndrome is characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head brachycephaly and joint stiffness. Weillmarchesani syndrome uncountable a rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities. Additionally, a lack of this enzyme may disrupt the normal development of the heart, resulting in the heart defects occasionally seen in people with weill marchesani syndrome. The weill marchesani syndrome is comparatively common in the amish religious isolate of the usa, and mcgavic in 1966 suggested the overall short stature of this group might be a reflection of the large number of heterozygotes in this community. Pdf only weillmarchesani syndrome with secondary angle closure glaucoma thattaruthody, faisal ms. Weillmarchesani syndrome wms, a rare connective tissue disorder, was first described by weill in 1932 and further. Weillmarchesani syndrome mim 277 600, 608 328, 6 195 spherophakiabrachymorphism syndrome rare.
Although the zonules were intact, depth of the central anterior chamber was reduced as. Weillmarchesani syndrome is a rare genetic disorder characterized by short stature. Weillmarchesani syndrome wms is a rare connective tissue disorder first described by weill 1 in 1932, and further delineated by marchesani. Ideal sources for wikipedias health content are defined in the guideline wikipedia. Weill marchesani syndrome nord national organization for. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. A novel adamts17 variant that causes weillmarchesani. It is suggested that this family provides further evidence for genetic heterogeneity in this condition. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for weillmarchesani. Corneal microstructural analysis in weillmarchesani syndrome. Weill marchesani syndrome autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities upload media.
A sixyearold female with weillmarchesani syndrome, which has caused a dislocated lens. This causes abnormalities of the extracellular matrix with fibrous tissue hyperplasia characterized by. Weillmarchesani syndrome definition of weillmarchesani. Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities e. Description weill marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities. The defects of the eye vary dramatically from minimal problems to blindness.
It is probably an inherited disease of unknown etiology manifesting itself in organs of mesodermal origin. What is weillmarchesani syndromecausessymptomstreatment. It is an autosomal recessive trait, occurring in 1 in 00 individuals. The slitlamp examination showed an inferiorly subluxated lens in the right eye. Weillmarchesani syndrome2 is allelic to geleophysic dysplasia2 and acromicric dysplasia, the skeletal and joint features of which overlap with wms, as well as marfan syndrome. Accumulation of reactive oxygen species such as o 2. Investigations of a patient with the full picture of the syndrome revealed normal growth hormone levels following insulin and glucagon. Weil marchesani syndrome is also known as marchesanis syndrome. Aug 10, 2017 weill marchesani syndrome is an extremely rare genetic pathological condition of the connective tissues which is characterized as mainly ocular abnormalities with abnormalities of the lens along with an abnormally short stature, an extremely broad head, and joint stiffness. Weillmarchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern when weillmarchesani syndrome is caused by mutations in the adamts10 gene, it has an autosomal recessive pattern of inheritance.
Weill marchesani syndrome is a rare genetic disorder of connective tissue. Weill marchesani syndrome follows autosomal recessive or autosomal dominant inheritance. The molecular genetics of marfan syndrome and related. On examination, she had a short stature of 4 feet 4 inches, short broad head brachycephaly. From ghr weill marchesani syndrome is a disorder of connective tissue. Aim tumour necrosis factor, lipid are enzymes in patients. Weillmarchesani syndrome with bilateral angleclosure. Weillmarchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. Named after ophthalmologists georges weill 18661952 and oswald marchesani 19001952, who first described it. Enable javascript to view the expandcollapse boxes. Investigations of a patient with the full picture of the syndrome revealed normal growth hormone levels following insulin and glucagon stimulation as well as. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
Wms, omim 277600 is a rare connective tissue disorder, characterized by microspherophakia, severe myopia, acute andor chronic glaucoma, and cataract 1,2. The weillmarchesani syndrome is comparatively common in the amish religious isolate of the usa, and mcgavic in 1966 suggested the overall short stature of this group might be a reflection of the large number of heterozygotes in this community. Best corrected visual acuity bcva in the right eye was 20200 and finger counting close to face fccf in the left. Weillmarchesani syndrome in mother and son weillmarchesani syndrome in mother and son y oung, i. Weillmarchesani syndrome article pdf available in indian pediatrics 328. When weill marchesani syndrome is caused by mutations in the adamts10 gene, it has an autosomal recessive pattern of inheritance. Weill marchesani syndrome uncountable a rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities. Identification and molecular characterisation of a homozygous. Wms is caused by mutations in the fbn1, adamts10, and ltbp2 genes. Weillmarchesani syndrome with advanced glaucoma and corneal. Many affected individuals have additional craniofacial abnormalities including a narrow roof of the mouth palate. The proband was a 17yearold boy who had ectopia lentis, myopia, elevated intraocular. Accumulation of reactive oxygen species such as o2, h2o2 and oh causes lipid peroxidation lpo, whereas antioxidant enzymes superoxide dismutase sod, glutathione peroxidase gshpx mediate defence against oxidative stress. Weillmarchesani syndrome genetic and rare diseases.
Weill marchesani syndrome wms, also called mesodermal dysmorphodystrophy, is a systemic connective tissue disorder related to the altered encoding for protein of extracellular matrix with fibrous tissue hyperplasia 1 dagoneau n, benoistlasselin c, huber c, et al. Marchesani syndrome wms is a rare systemic connective tissue. Acute glaucoma is a wellknown complication of the weillmarchesani syndrome. Weill marchesani syndrome 2 is allelic to geleophysic dysplasia2 and acromicric dysplasia, the skeletal and joint features of which overlap with wms, as well as marfan syndrome. The ocular problems, typically recognized in childhood, include microspherophakia small spherical lens, myopia secondary to the abnormal shape of the lens, ectopia lentis abnormal position of the. Weillmarchesani syndrome wms, also called mesodermal dysmorphodystrophy, is a systemic connective tissue disorder related to the altered encoding for protein of extracellular matrix with fibrous tissue hyperplasia. Mim 277600 is an autosomal recessive disorder caused by mutations in the. Weill marchesani syndrome an overview sciencedirect topics. These effects were reversed by pupillary dilation with mydriatics. Signs and symptoms of weillmarchesani syndrome may include. Tumour necrosis factor alpha, lipid peroxidation and no. The condition is named after oswald marchesani and georges weill.
Connective tissue forms the bodys supportive framework, providing structure and strength to the muscles, joints, organs, and skin. Weillmarchesani syndrome is characterized by a broad head, short stature, hand abnormalities, and eye defects. At least five mutations in the adamts10 gene have been identified in people with weillmarchesani syndrome. Description weillmarchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities. Both autosomal recessive ar and autosomal dominant ad modes of inheritance have been described and a. Weillmarchesani syndrome wms is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma. To report the diagnostic features and management strategy of a rare case of weill marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. Sep 29, 2017 signs and symptoms of weill marchesani syndrome may include short height, but arms, legs, body, and head size are all proportionate to height. Leriweill syndrome definition of leriweill syndrome by. A case of weillmarchesani syndrome with inversion of. Disease bioinformatics weillmarchesani syndrome is a rare genetic disorder that causes abnormal features at birth. Mim 277600 is an autosomal recessive disorder caused by mutations in the adamts10 gene. Weill marchesani syndrome wms is a rare connective tissue disorder first described by weill 1 in 1932, and further delineated by marchesani.
Researchers speculate that a loss of this enzyme disrupts skeletal development, leading to short stature and unusually short fingers and toes brachydactyly. Weillmarchesani syndrome is a rare disorder of the connective tissue. Both autosomal recessive ar and autosomal dominant ad modes of inheritance have been described and a gene for ar wms has recently been mapped to. Wirtz mk, samples jr, kramer pl, rust k, yount j, acott ts, koler rd, cisler j, jahed a, gorlin rj, godfrey m 1996 weillmarchesani syndrome possible linkage of the autosomal dominant form to 15q21. Although we have previously reported a large family with autosomal dominant transmission,12 recessive mode of inheri. Weill marchesani syndrome wms was first reported by weill10 and marchesani. Background weill marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma.
Weillmarchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute andor chronic glaucoma, and. Weillmarchesani syndrome wms is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. Marchesani syndrome and secondary glaucoma associated. Mediators of inflammation hindawi publishing corporation.
The leading cause of premature death in untreated individuals with mfs is acute aortic dissection, which. Weill marchesani syndrome weill marchesanis syndrom engelsk definition. Best corrected visual acuity bcva in the right eye was 20200 and finger. Mar 11, 2016 the authors describe a case of acute angleclosure glaucoma in a highly myopic patient secondary to weillmarchesani syndrome wms and histopathologic features of his lens. Marfan syndrome mfs, a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin1 fbn1. Patients may also have stiff joints and thickened skin, especially on the hands. Corneal microstructural analysis in weill marchesani syndrome by in vivo confocal microscopy anna m roszkowska, pasquale aragona ophthalmology section, department of surgical specialties, university of messina, italy. Here are links to possibly useful sources of information about weillmarchesani syndrome. Weill marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. Weillmarchesani syndrome includes short stature, brachydactyly, microspherophakia, glaucoma, and ectopia lentis. Joseph marchesani, american science fiction historian and author, known for his book marvel science stories 1985 oswald marchesani 19001952, american ophthalmologist who coidentified weillmarchesani syndrome, a rare, genetic disorder characterized by short stature, broad head and other facial abnormalities. An eye lens problem called microspherophakia is characteristic of weillmarchesani syndrome. Each of these mutations prevents the cell from producing any functional adamts10 enzyme. Weillmarchesanilike syndrome connective tissue gene tests.
Weill marchesani syndrome wms is a rare systemic disorder with both autosomal recessive and dominant inheritances. In frame fibrillin1 gene deletion in autosomal dominant. Weill marchesani syndrome wms is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby hands and feet and stiff joints, especially in the hands. The leading cause of premature death in untreated individuals with mfs is acute aortic dissection, which often follows a period of progressive. Pdf wms, omim 277600 is a rare connective tissue disorder, characterized by. The major signs and symptoms of weill marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes brachydactyly, and joint stiffness. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. Weillmarchesani syndrome vil mahrkasahne, mim277600 ectopia lentis lens abnormally round and small, short stature, and brachydactyly.
525 1382 1532 184 1490 296 757 1125 1364 903 474 344 1061 433 1235 609 124 1548 34 743 900 781 1072 1419 831 1096 121 199 1315 854 1314 901 1093 751 1026