osteoglophonic dysplasia (DOID:0111532)
Alliance: disease page
Synonyms: Fairbank-Keats syndrome; OGD; osteoglophonic dwarfism
Alt IDs: OMIM:166250, MESH:C536050, ORDO:2645, UMLS_CUI:C0432283
Definition: An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.