Multiple pterygium syndrome, Escobar variant
| Disorder | |
|---|---|
| OMIM #: | #265000 (Click to access OMIM database) |
| Disorder: | Multiple pterygium syndrome, Escobar variant |
| Also known as: | ESCOBAR SYNDROME MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE PTERYGIUM SYNDROME MULTIPLE PTERYGIUM SYNDROME PTERYGIUM COLLI SYNDROME PTERYGIUM UNIVERSALE |
| Clinical | |
| Phenotype: | webbing (pterygia) of the neck, elbows, and/or knees, joint contractures, facial dysmorphism, respiratory distress, skeletal dysplasia, vertebral defects |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CHRNG |
| Base Change: | c.459_460insA |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| References |
|---|
| Personal communication; seen at CSC. |
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