Pfeiffer syndrome
| Disorder | |
|---|---|
| OMIM #: | #101600 (Click to access OMIM database) |
| Disorder: | Pfeiffer syndrome |
| Also known as: | ACROCEPHALOSYNDACTYLY, TYPE V ACS5 ACS V NOACK SYNDROME |
| Clinical | |
| Phenotype: | craniosynostosis, maxillary hypoplasia, hypertelorism, proptosis, strabismus, choanal atresia, high-arched palate, syndactyly, hydrocephalus |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | FGFR2 |
| Base Change: | T>C, at nucleotide 799 |
| Amino Acid Change: | |
| Last updated: | 2022-11-14 |
| References |
|---|
| Personal communication; seen at CSC. |
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