fibrochondrogenesis 1 (DOID:0080672)
Alliance: disease page
Alt IDs: OMIM:228520
Definition: A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21.