Weill-Marchesani syndrome

Term ID

DOID:0050475

Synonyms

• congenital mesodermal dystrophy
• GEMSS syndrome
• Marchesani-Weill Syndrome
• Mesodermal Dysmorphodystrophy, Congenital
• Spherophakia Brachymorphia Syndrome

Definition

A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (2)

References

• GARD:4936
• MESH:D056846
• NCI:C85226
• OMIM:277600
• OMIM:608328
• OMIM:613195
• OMIM:614819
• OMIM:PS277600
• ORDO:3449
• SNOMEDCT_US_2023_03_01:205801004
• UMLS_CUI:C0265313
• UMLS_CUI:C1869114
• UMLS_CUI:C1869115

Ontology

Human Disease   ( DOID:0050475 )