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MedlinePlus Health Topics
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C0265313
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0265313
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|---|---|
| Preferred Name | WMS |
| Definitions |
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.~The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches.~An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.~Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.
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| Synonyms |
Brachymorphy with spherophakia syndrome
Marchesani syndrome
Weill-Marchesani syndrome
Congenital mesodermal dysmorphodystrophy
Marchesani-Weill Syndrome
Brachydactyly-spherophakia syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.~The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches.~An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.~Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome. |
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| altLabel |
Brachymorphy with spherophakia syndrome
Marchesani syndrome
Weill-Marchesani syndrome
Congenital mesodermal dysmorphodystrophy
Marchesani-Weill Syndrome
Brachydactyly-spherophakia syndrome
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| prefLabel | WMS
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| Associated condition of | |
| DB XR ID | GTR:C0265313~GTR:C1869115~GTR:C4552002~MeSH:D056846~OMIM:277600~OMIM:608328~SNOMED CT:2884008
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| Inheritance | ar:Autosomal recessive~ad:Autosomal dominant
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| type | |
| tui | T047
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| notation | C0265313
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| Semantic type UMLS property | |
| cui | C0265313
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