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multiple synostoses syndrome 2
Summary
- Definition
- A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
- Super Class
- multiple synostoses syndrome
External Links
- Disease Ontology
- DOID:0081318
- Mondo Disease Ontology
- OMIM
- GARD
