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. 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. The fbn1 gene provides instructions for making a protein called fibrillin1.
The slitlamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated. Weillmarchesani syndrome wms is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby hands and. 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. Weillmarchesani syndrome includes short stature, brachydactyly, microspherophakia, glaucoma, and ectopia lentis. Weillmarchesani syndrome is characterized by a broad head, short stature, hand abnormalities, and eye defects. 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. A sixyearold female with weillmarchesani syndrome, which has caused a dislocated lens. Signs and symptoms of weillmarchesani syndrome may include.
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. Investigations of a patient with the full picture of the syndrome revealed normal growth hormone levels following insulin and glucagon stimulation as well as. Weill marchesani syndrome wms is a rare systemic disorder with both autosomal recessive and dominant inheritances. Investigations of a patient with the full picture of the syndrome revealed normal growth hormone levels following insulin and glucagon. Corneal microstructural analysis in weillmarchesani syndrome. The treatment of weillmarchesani syndrome is directed toward the specific symptoms. What is weillmarchesani syndromecausessymptomstreatment. A case of weillmarchesani syndrome with inversion of.
Weillmarchesani syndrome in mother and son, clinical. Weillmarchesani syndrome mim 277 600, 608 328, 6 195 spherophakiabrachymorphism syndrome rare. A novel adamts17 variant that causes weillmarchesani. To report the diagnostic features and management strategy of a rare case of weill marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. 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.
Best corrected visual acuity bcva in the right eye was 20200 and finger counting close to face fccf in the left. Weillmarchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute andor chronic glaucoma, and. When weill marchesani syndrome is caused by mutations in the adamts10 gene, it has an autosomal recessive pattern of inheritance. Weillmarchesani syndrome in mother and son weillmarchesani syndrome in mother and son y oung, i.
The molecular genetics of marfan syndrome and related. Weill marchesani syndrome weill marchesanis syndrom engelsk definition. Although the zonules were intact, depth of the central anterior chamber was reduced as. Consent to publish the case including patients clinical photographs was obtained. Weillmarchesani syndrome wms is a rare systemic disorder with both autosomal recessive and dominant inheritances.
Acute glaucoma is a wellknown complication of the weillmarchesani syndrome. The leading cause of premature death in untreated individuals with mfs is acute aortic dissection, which. Weill marchesani syndrome follows autosomal recessive or autosomal dominant inheritance. Acute glaucoma is a wellknown complication of the weill marchesani syndrome. A 35yearold woman presented with painful decreased vision in both eye over 3 months. Weillmarchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including. Weillmarchesanilike syndrome connective tissue gene tests.
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. In frame fibrillin1 gene deletion in autosomal dominant. Weillmarchesani syndrome genetics home reference nih. The slitlamp examination showed an inferiorly subluxated lens in the right eye. Weillmarchesani syndrome is characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head brachycephaly and joint stiffness. Some heterozygotes for ar wms present with some mild clinical manifestations of the disease, such as brachydactyly. Each of these mutations prevents the cell from producing any functional adamts10 enzyme. Weill marchesani syndrome wms was first reported by weill10 and marchesani. Identification and molecular characterisation of a homozygous. Connective tissue forms the bodys supportive framework, providing structure and strength to the muscles, joints, organs, and skin. Disease bioinformatics weillmarchesani syndrome is a rare genetic disorder that causes abnormal features at birth. Weillmarchesani syndrome wms is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet brachydactyly.
Weillmarchesani syndrome definition of weillmarchesani. Pupillaryblock glaucoma in the marchesani syndrome jama. Tumour necrosis factor alpha, lipid peroxidation and no. 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. Weillmarchesani syndrome weillmarchesanis syndrom engelsk definition. Many affected individuals have additional craniofacial abnormalities including a narrow roof of the mouth palate.
Weillmarchesani syndrome wms is a rare connective tissue disorder first described by weill 1 in 1932, and further delineated by marchesani. Weillmarchesani syndrome with bilateral angleclosure. 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. 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. Weill marchesani syndrome autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities upload media. Functional variants in adamts10 are associated with weillmarchesani syndrome1. 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.
Marchesani syndrome and secondary glaucoma associated. Access to this free content requires users to be registered and logged in. Weill marchesani syndrome is a rare genetic disorder of 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. A mutation in the fbn1 gene has also been found to cause weillmarchesani syndrome. Autosomal recessive inheritance means both copies of the gene in each cell have mutations.
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. Weillmarchesani syndrome with secondary angle closure glauc. 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. To report the diagnostic features and management strategy of a rare case of weillmarchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. Weillmarchesani syndrome genetic and rare diseases. 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. Mediators of inflammation hindawi publishing corporation. Weill marchesani syndrome uncountable a rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities. Here are links to possibly useful sources of information about weillmarchesani syndrome. Enable javascript to view the expandcollapse boxes. Weill marchesani syndrome wms is a rare connective tissue disorder first described by weill 1 in 1932, and further delineated by marchesani. Glaucoma services, advanced eye centre, postgraduate institute of medical education and research, chandigarh, india 160012. 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. 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.
Corneal microstructural analysis in weillmarchesani. Weill marchesani syndrome is characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head brachycephaly and joint stiffness. Wms, omim 277600 is a rare connective tissue disorder, characterized by microspherophakia, severe myopia, acute andor chronic glaucoma, and cataract 1,2. On examination, she had a short stature of 4 feet 4 inches, short broad head brachycephaly. Weill marchesani syndrome nord national organization. Weillmarchesani syndrome genetic and rare diseases nih. Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities e. Mim 277600 is an autosomal recessive disorder caused by mutations in the. An eye lens problem called microspherophakia is characteristic of weillmarchesani syndrome.
Marchesani syndrome consists essentially of shortness of stature, spherophakia and other eye abnormalities and brachydactyly. It is suggested that this family provides further evidence for genetic heterogeneity in this condition. Marchesani syndrome wms is a rare systemic connective tissue. Description weillmarchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities. Autosomal dominant transmission of mutations of the fbn1 gene on 15q21. 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. Know the causes, symptoms, treatment of weill marchesani syndrome.
The patient was diagnosed with weillmarchesani syndrome. The occurrence of spherophakia, ectopia lentis, brachydactylia, and short stature was first reported by weill in 1932. 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. The leading cause of premature death in untreated individuals with mfs is acute aortic dissection, which often follows a period of progressive. The defects of the eye vary dramatically from minimal problems to blindness. Aim tumour necrosis factor, lipid are enzymes in patients. Adamts10 mutations in autosomal recessive weillmarchesani syndrome am j.
Best corrected visual acuity bcva in the right eye was 20200 and finger. Weillmarchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. 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. Pdf wms, omim 277600 is a rare connective tissue disorder, characterized by. Adamts10 mutations in autosomal recessive weill marchesani syndrome am j hum genet 2004. Weillmarchesani syndrome is a rare genetic disorder characterized by short stature. Ideal sources for wikipedias health content are defined in the guideline wikipedia.
Weill marchesani syndrome in mother and son weill marchesani syndrome in mother and son y oung, i. 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. 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. Weillmarchesani syndrome article pdf available in indian pediatrics 328. Accumulation of reactive oxygen species such as o 2. 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. 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. 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. Pdf only weillmarchesani syndrome with secondary angle closure glaucoma thattaruthody, faisal ms.
The disease is genetically determined with both autosomal dominant and recessive inheritance modalities and exhibit. Weillmarchesani syndrome vil mahrkasahne, mim277600 ectopia lentis lens abnormally round and small, short stature, and brachydactyly. Researchers speculate that a loss of this enzyme disrupts skeletal development, leading to short stature and unusually short fingers and toes brachydactyly. Description weill marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities. This causes abnormalities of the extracellular matrix with fibrous tissue hyperplasia characterized by. Weillmarchesani syndrome wms, a rare connective tissue disorder, was first described by weill in 1932 and further. 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. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. 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. Background weill marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. Although we have previously reported a large family with autosomal dominant transmission,12 recessive mode of inheri. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for weillmarchesani.
This protein is needed to form threadlike filaments, called microfibrils, that help provide strength and flexibility to connective tissue. Weillmarchesani syndrome with secondary angle closure. Weillmarchesani syndrome with advanced glaucoma and corneal. Other symptoms include brachydactyly and short stature. It is probably an inherited disease of unknown etiology manifesting itself in organs of mesodermal origin. Weillmarchesani syndrome with bilateral angleclosure glaucoma. From ghr weill marchesani syndrome is a disorder of connective tissue. Mim 277600 is an autosomal recessive disorder caused by mutations in the adamts10 gene. Weillmarchesani syndrome with advanced glaucoma and.
Weillmarchesani syndrome uncountable a rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities. The condition is named after oswald marchesani and georges weill. Weillmarchesani syndrome wms is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. This report does not contain any personal information that could lead to the identification of the patient. Additionally, some patients have cardiac valvular abnormalities. 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. Identification and molecular characterisation of a. The proband was a 17yearold boy who had ectopia lentis, myopia, elevated intraocular. 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. Weil marchesani syndrome is also known as marchesanis syndrome. 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. 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.
It is an autosomal recessive trait, occurring in 1 in 00 individuals. 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. Patients may also have stiff joints and thickened skin, especially on the hands. Weill marchesani syndrome nord national organization for. Weillmarchesani syndrome autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities upload media. Weillmarchesani syndrome is a rare disorder of the connective tissue. Weillmarchesani syndrome wms is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, severe myopia, glaucoma, and microspherophakia. Weill marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. These effects were reversed by pupillary dilation with mydriatics. Weill marchesani syndrome an overview sciencedirect topics. 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.
At least five mutations in the adamts10 gene have been identified in people with weillmarchesani syndrome. Angleclosure glaucoma was induced by miosis or topical application of 1 % pilocarpine hydrochloride in an adult who had marchesani syndrome. The major signs and symptoms of weill marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes brachydactyly, and joint stiffness. 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. It was named after ophthalmologists georges weill 18661952 and oswald.
1523 1585 1191 330 1013 1575 329 680 925 803 834 97 121 1259 1277 970 1386 1477 885 1004 604 152 3 1583 870 1033 178 1417 996 1085 1215 620 1161 1425 87 1450 739 698 1415 976