Apert syndrome
| Disorder | |
|---|---|
| OMIM #: | #101200 (Click to access OMIM database) |
| Disorder: | Apert syndrome |
| Also known as: | ACROCEPHALOSYNDACTYLY, TYPE I ACS1 ACS I |
| Clinical | |
| Phenotype: | craniosynostosis, acrobrachycephaly, megalencephaly, midface hypoplasia, prognathism, hyperteorism, proptosis, strabismus, low nasal bridge, choanal atresia, cleft palate, syndactyly, ventricular septal defect, pyloric stenosis, cryptorchidism, vaginal atresia, fusion of carpal bones, developmental delay, genesis of the corpus callosum, hydrocephalus, ventriculomegaly |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | FGFR2 |
| Base Change: | C>G, at nucleotide 758 |
| Amino Acid Change: | |
| Last updated: | 2022-11-01 |
| References |
|---|
| Personal communication; seen at CSC. |
Back