Weill marchesani syndrome. Medical search. Frequent questions

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. (medlineplus.gov)
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome. (medscape.com)
Supertemporal dislocation of a lens in the right eye of a patient with Marfan syndrome. (medscape.com)
It can occur as an isolated entity or familial entity or associated with systemic disorders such as Weill Marchesani syndrome, Homocystinuria, Marfan syndrome, Alport syndrome, Klinefelter syndrome, Lowe syndrome, Peter's anomaly, Cri-du-chat syndrome. (ijo.in)
Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome . (medlineplus.gov)
7 LTBP2 expression pattern in the anterior segment of the eyes and reports regarding identification of pathogenic mutations of LTBP2 gene in the primary congenital glaucoma (PCG), 7 Weill-Marchesani syndrome (WMS) and Marfan syndrome5 patients demonstrate LTBP2 involvement in different eye disorders. (org.pk)

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. (genomeweb.com)
Gardner syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth , multiple jaw osteomas that give a "cotton-wool" appearance to the jaws, as well as multiple odontomas , congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon. (wikipedia.org)
Mutations in ADAMTS10 and ADAMTS17 cause Weill-Marchesani syndrome (WMS), a congenital syndromic disorder that affects the musculoskeletal system (short stature, pseudomuscular build, tight skin), the eyes (lens dislocation), and the heart (heart valve abnormalities). (encyclopedia.pub)
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. (childrensmercy.org)

Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. (medlineplus.gov)
Mutations in this gene disrupt the normal development of these structures, which leads to the specific features of Weill-Marchesani syndrome. (medlineplus.gov)
In some people with Weill-Marchesani syndrome, no mutations in ADAMTS10 or FBN1 have been found. (medlineplus.gov)
X-linked Alport syndrome is largely caused by mutations in COL4A5 which codes for a component of type IV collagen. (rbht.nhs.uk)
Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. (rbht.nhs.uk)
Other, less well-characterised forms of Ehlers-Danlos syndrome result from mutations in additional genes [10] . (rbht.nhs.uk)
See also Weill-Marchesani Syndrome 1 ( 277600 ), and Weill-Marchesani Syndrome 2 ( 608328 ) for other conditions with clinical similarities but caused by different mutations. (arizona.edu)
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. (uchicago.edu)
LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. (jefferson.edu)
In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. (jefferson.edu)
Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. (childrensmercy.org)

Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (genomeweb.com)

Omulecki W, Wilczynski M, Gerkowicz M. Management of bilateral ectopia lentis et pupillae syndrome. (medscape.com)
Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. (medlineplus.gov)

However, long term medical management of glaucoma has not proven to be successful for patients with Weill-Marchesani syndrome. (wikipedia.org)

Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. (medlineplus.gov)
Gardner syndrome has an autosomal dominant pattern of inheritance. (wikipedia.org)

Weill-Marchesani syndrome may have autosomal recessive inheritance involving the ADAMTS10 gene, or autosomal dominant inheritance involving the FBN1 gene. (wikipedia.org)

Researchers believe that the unstable protein interferes with the normal assembly of microfibrils, which weakens connective tissue and causes the abnormalities associated with Weill-Marchesani syndrome. (medlineplus.gov)
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. (sdsu.edu)

614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). (beds.ac.uk)

Several families have been reported in which the ocular features were similar to Weill-Marchesani syndromes WMS1 and WMS2 but lacked most of the skeletal features. (arizona.edu)

A mutation in the FBN1 gene has also been found to cause Weill-Marchesani syndrome. (medlineplus.gov)
Gardner syndrome is caused by mutation in the adenomatous polyposis coli (APC gene), located in chromosome 5q21 (band q21 on chromosome 5). (wikipedia.org)
Each of their children, male and female alike, are at 50% risk of inheriting the gene for Gardner syndrome. (wikipedia.org)
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). (beds.ac.uk)
A number sign (#) is used with this entry because of evidence that susceptibility to Yao syndrome (YAOS) is conferred by variation in the NOD2 gene (605956) on chromosome 16q12. (findzebra.com)
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies [1] . (rbht.nhs.uk)

A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. (rush.edu)

The FBN1 mutation responsible for Weill-Marchesani syndrome leads to an unstable version of fibrillin-1. (medlineplus.gov)

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (genomeweb.com)

Weill-Marchesani syndrome is a disorder of connective tissue. (medlineplus.gov)
Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. (e-apem.org)
Yao syndrome (formerly called NOD2 -associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. (findzebra.com)

An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. (medlineplus.gov)
Our patient had no clinical features characteristic of any syndrome. (ijo.in)

Loeys-Dietz syndrome (LDS) is an aortic aneurysm syndrome characterised by vascular, skeletal, cutaneous, and craniofacial findings. (rbht.nhs.uk)

Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females. (beds.ac.uk)

Gardner's syndrome (also known as Gardner syndrome , familial polyposis of the colon , [1] or familial colorectal polyposis [2] ) is a subtype of familial adenomatous polyposis (FAP). (wikipedia.org)
Gardner syndrome is also associated with familial adenomatous polyposis and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum. (wikipedia.org)

Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)

Child with Hurler syndrome (mucopolysaccharidosis type IH). (medscape.com)

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterised by joint hypermobility, skin hyperextensibility, and tissue fragility [9] . (rbht.nhs.uk)

The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. (jefferson.edu)

While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. (nih.gov)

Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome. (medlineplus.gov)

Noonan Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). (jefferson.edu)
This graph shows the total number of publications written about "Noonan Syndrome" by people in this website by year, and whether "Noonan Syndrome" was a major or minor topic of these publications. (jefferson.edu)
Below are the most recent publications written about "Noonan Syndrome" by people in Profiles. (jefferson.edu)
Cardiac transplantation in children with Noonan syndrome. (jefferson.edu)

Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)

Child with Robinow syndrome. (medscape.com)

Short stature is a feature of this syndrome but brachydactyly and decreased joint mobility are not present. (arizona.edu)

Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). (medscape.com)

We report the first Korean case of genetically-confirmed Myhre syndrome in Korea. (e-apem.org)

The trismus-pseudocamptodactyly syndrome is a distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. (beds.ac.uk)
Description Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. (findzebra.com)

Microspherophakia and spontaneous inferior dislocation of a lens in a patient with Weil-Marchesani syndrome. (medscape.com)

Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. (medlineplus.gov)

Anatomy4

Organisms3

Diseases194

Chemicals and Drugs6

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology8

Phenomena and Processes23

Information Science6

Named Groups1

Health Care16

Marfan6

Congenital4

Mutations11

ADAMTS171

Ectopia lentis2

Glaucoma1

Autosomal dominant pattern2

ADAMTS101

Abnormalities2

6083281

WMS21

Gene6

Ocular1

Systemic1

Fibrillin1

Megalencephaly-capillary malformation syndrome1

Disorder3

Characteristic2

Aortic1

Deficiency1

Familial2

Dysplasia1

Mucopolysaccharidosis1

Disorders1

Abnormality1

Clinical1

Defects1

Noonan5

Hurler1

Robinow1

Brachydactyly1

Short1

Genetically1

Distal2

Lens1

Adult1