| Syndactyly-nystagmus syndrome due to 2q31.1 duplication | |
| Synonyms: | 2q31.1 microduplication syndrome |
| Symptoms: | Mainly syndactyly and congenital bilateral pendular nystagmus |
| Complications: | none |
| Onset: | birth |
| Duration: | lifelong (unless surgically corrected) |
| Causes: | genetic mutation (more specifically an autosomal dominant chromosomal microduplication containing HOX genes) |
| Risk: | --> |
| Prevention: | none |
| Management: | --> |
| Prognosis: | good |
| Frequency: | rare |
| Deaths: | - |
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication, also known as 2q31.1 microduplication syndrome, is a rare genetic disorder characterized by syndactyly affecting the third-fourth fingers and bilateral congenital nystagmus.[1]
The following list comprises most of the symptoms shown by individuals with this condition:[2]
Less common symptoms include:
There are usually no complications associated with this condition, although the limb shortening and hand anomalies might cause other psychological complications such as social insecurity.
This condition is caused by a 1 to 3.8 mb duplication of genetic material on the long arm of chromosome 2, more specifically, a location known as 2q31.1[3] [4]
For one to be diagnosed with this condition, they have to be physically examined and genetically tested.
Only 6 cases from 2 families in Korea and France have been described in medical literature.[5]