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Disease Weill-Marchesani Syndrome

Name Weill-Marchesani Syndrome
Synonyms 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 Syndrome | Spherophakia Brachymorphia Syndromes | Syndrome, Spherophakia Brachymorphia | Syndromes, Spherophakia Brachymorphia | Weill Marchesani Syndrome | WEILL-MARCHESANI SYNDROME 1 | WEILL-MARCHESANI SYNDROME 2 | WEILL-MARCHESANI SYNDROME 3 | Weill Marchesani Syndrome, Autosomal Dominant | Weill-Marchesani Syndrome, Autosomal Dominant | Weill Marchesani Syndrome, Autosomal Recessive | Weill-Marchesani Syndrome, Autosomal Recessive | WMS1 | WMS2 | WMS3
Definition 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.
Categories Congenital abnormality | Connective tissue disease | Eye disease | Genetic disease (inborn) | Musculoskeletal disease
MeSH® ID D056846
OMIM® IDs 277600 | 608328 | 614819
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Dwarfism Has associated chemicals Has associated genes Weill-Marchesani Syndrome Has associated chemicals Has associated genes
2. DiseasesEye Diseases Has associated chemicals Has associated genes Has associated exposure references Eye Diseases, Hereditary Has associated chemicals Has associated genes Weill-Marchesani Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Weill-Marchesani Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Eye Diseases, Hereditary Has associated chemicals Has associated genes Weill-Marchesani Syndrome Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Weill-Marchesani Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

None.