Weill-Marchesani Syndrome
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.
推出的年份: 2010
树号: C05.116.099.343.957, C11.270.921, C16.131.077.941, C16.320.290.842, C17.300.899
MeSH 单一 ID: D056846
进入的组:
Marchesani Syndrome
Weill Marchesani Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Congenital Mesodermal Dysmorphodystrophies
Dysmorphodystrophies, Congenital Mesodermal
Dysmorphodystrophy, Congenital Mesodermal
Mesodermal Dysmorphodystrophies, Congenital
Spherophakia Brachymorphia Syndrome
Spherophakia Brachymorphia Syndromes
Syndrome, Spherophakia Brachymorphia
Syndromes, Spherophakia Brachymorphia
Spherophakia-Brachymorphia Syndrome
Congenital Mesodermal Dysmorphodystrophy
Marchesani-Weill Syndrome
Marchesani Weill Syndrome
Marchesani-Weill Syndromes
Weill-Marchesani Syndrome, Autosomal Recessive
Weill Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Dominant
Weill Marchesani Syndrome, Autosomal Dominant
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
GEMSS
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