Alternative titles; symbols
ORPHA: 168624;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 10q26.13 | ?Scaphocephaly, maxillary retrusion, and impaired intellectual development | 609579 | 3 | FGFR2 | 176943 |
A number sign (#) is used with this entry because of evidence that scaphocephaly, maxillary retrusion, and impaired intellectual development is caused by heterozygous mutation in the FGFR2 gene (176943) on chromosome 10q26. One such family has been reported.
McGillivray et al. (2005) reported a 3-generation family in which 11 members showed autosomal dominant inheritance of a distinct craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. The authors noted that the absence of shallow orbits and ocular proptosis in this kindred excluded the diagnosis of Crouzon syndrome (123500).
In affected members of a 3-generation family with scaphocephaly, maxillary retrusion, and impaired intellectual development, McGillivray et al. (2005) screened for mutations in genes known to be associated with craniosynostosis and identified a heterozygous missense mutation in the FGFR2 gene (K526E; 176943.0034). The mutation was not found in unaffected family members who were tested nor in 110 control chromosomes. McGillivray et al. (2005) stated that this was the first report of a pathogenic mutation in a craniosynostosis syndrome manifesting predominantly as scaphocephaly.
McGillivray, G., Savarirayan, R., Cox, T. C., Stojkoski, C., McNeil, R., Bankier, A., Bateman, J. F., Roscioli, T., Gardner, R. J. M., Lamande, S. R. Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. (Letter) J. Med. Genet. 42: 656-662, 2005. [PubMed: 16061565] [Full Text: https://doi.org/10.1136/jmg.2004.027888]