Thanatophoric dysplasia, type I
| Disorder | |
|---|---|
| OMIM #: | #187600 (Click to access OMIM database) |
| Disorder: | Thanatophoric dysplasia, type I |
| Also known as: | THANATOPHORIC DYSPLASIA TD THANATOPHORIC DWARFISM PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE |
| Clinical | |
| Phenotype: | lethal short-limb dwarfism, developmental delay, respiratory distress, curved and short femurs with or without cloverleaf skull, other skeletal defects, polyhydramnios, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish, Old Order Mennonite | |
| Gene: | FGFR3 |
| Base Change: | C>T, at nucleotide 742 |
| Amino Acid Change: | |
| Last updated: | 2022-11-12 |
| References |
|---|
| Personal communication; seen at CSC. |
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