Crouzon syndrome with acanthosis nigricans is associated with mutation in FGFR3 gene.It is characterised by craniosynostosis and acanthosis nigricans.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal dominant
4p16.3
Crouzon syndrome with acanthosis nigricans is associated with mutation in FGFR3 gene.It is characterised by craniosynostosis and acanthosis nigricans.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612247.1 | Saudi Arabia | Female | Craniosynostosis; Proptosis Craniosynostosis; Proptosis  | NM_000142.5:c.1172C>A | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | Mutation is de novo.... |