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DeCS
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Descriptor English:
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Weill-Marchesani Syndrome
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Descriptor Spanish:
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Síndrome de Weill-Marchesani
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Descriptor Portuguese:
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Síndrome de Weill-Marchesani
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Synonyms English:
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Congenital Mesodermal Dysmorphodystrophy
GEMSS
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Marchesani Syndrome
Marchesani-Weill Syndrome
Spherophakia-Brachymorphia Syndrome
Weill-Marchesani Syndrome, Autosomal Dominant
Congenital Mesodermal Dysmorphodystrophies
Dysmorphodystrophies, Congenital Mesodermal
Dysmorphodystrophy, Congenital Mesodermal
Marchesani Weill Syndrome
Marchesani-Weill Syndromes
Mesodermal Dysmorphodystrophies, Congenital
Spherophakia Brachymorphia Syndromes
Syndrome, Spherophakia Brachymorphia
Syndromes, Spherophakia Brachymorphia
Weill Marchesani Syndrome, Autosomal Dominant
Weill Marchesani Syndrome, Autosomal Recessive
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
Weill Marchesani Syndrome
Weill-Marchesani Syndrome, Autosomal Recessive
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Tree Number:
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C05.116.099.343.957
C11.270.921
C16.131.077.941
C16.320.290.842
C17.300.899
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Definition English:
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Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. |
See Related English:
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Marfan Syndrome
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History Note English:
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2010
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Allowable Qualifiers English:
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Record Number:
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53490
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Unique Identifier:
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D056846
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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