Fraser syndrome
| Disorder | |
|---|---|
| OMIM #: | #219000 (Click to access OMIM database) |
| Disorder: | Fraser syndrome |
| Also known as: | Cryptophthalmos with other malformations |
| Clinical | |
| Phenotype: | cryptophthalmos, blindness, hypoplasia of nares, broad nasal bridge, low nasal bridge, cleft palate, cleft lip, malformed auricles, laryngeal stenosis, laryngeal atresia, cutaneous syndactyly, genitourinary anomalies, renal agenesis, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | FRAS1 |
| Base Change: | c.748_758del11 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2022-11-04 |
| References |
|---|
| Siu VM, Lahiry P, Hegele RA, Rupar CA. (2015) MG-137 Autosomal recessive disorders are common in the old order amish population of southwestern ontario. J Med Genet 52(1). |
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