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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 Dysmorphodystrophies
Congenital Mesodermal Dysmorphodystrophy
Dysmorphodystrophies, Congenital Mesodermal
Dysmorphodystrophy, Congenital Mesodermal
GEMSS
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Marchesani Syndrome
Marchesani Weill Syndrome
Marchesani-Weill Syndrome
Marchesani-Weill Syndromes
Mesodermal Dysmorphodystrophies, Congenital
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
Spherophakia Brachymorphia Syndromes
Spherophakia-Brachymorphia Syndrome
Syndrome, Spherophakia Brachymorphia
Syndromes, Spherophakia Brachymorphia
Weill Marchesani Syndrome
Weill Marchesani Syndrome, Autosomal Dominant
Weill Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Dominant
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. |
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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
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