fibrochondrogenesis 1

Term ID

DOID:0080672

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/21035103/

References

• OMIM:228520

Ontology

Human Disease   ( DOID:0080672 )