Group of autosomal dominant genetic diseases characterized by midfacial hypoplasia, craniosynostosis, exophthalmos, and a shortened head.
Notes: - This affects the first branchial arch (pharyngeal arch), which is the precursor of the maxilla and mandible.
- This syndrome is thought to be caused by a genetic mutation of the FGFR3 gene, located on chromosome 10.
Source:
PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 741 (https://doi.org/10.1515/pac-2015-1202)