Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
| Syndactyly-nystagmus syndrome due to 2q31.1 duplication | |
|---|---|
| Other names | 2q31.1 microduplication syndrome |
 | |
| The microduplication associated with this condition is autosomal dominant | |
| Specialty | Medical genetics |
| Symptoms | Mainly syndactyly and congenital bilateral pendular nystagmus |
| Complications | none |
| Usual onset | birth |
| Duration | lifelong (unless surgically corrected) |
| Causes | genetic mutation (more specifically an autosomal dominant chromosomal microduplication containing HOX genes) |
| Prevention | none |
| 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]
Signs and symptoms
The following list comprises most of the symptoms shown by individuals with this condition:[2]
- Short stature
- Congenital bilateral pendular nystagmus
- Shortening of the radius
- Shortening of the ulna
- Shortening of the tibia
- Shortening of the fibula
- Congenital syndactyly of the fourth to fifth fingers of the hand.
Less common symptoms include:[2]
- Congenital clubfoot
- Complex hand anomalies
- Hypoplastic, triphalangeal thumbs
Complications
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.
Genetics
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]
Diagnosis
For one to be diagnosed with this condition, they have to be physically examined and genetically tested.
Epidemiology
Only 6 cases from 2 families in Korea and France have been described in medical literature.[5]
See also
References
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Syndactyly nystagmus syndrome due to 2q31.1 microduplication". www.orpha.net. Retrieved 2022-08-04.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b "Clinical Synopsis - #613681 - CHROMOSOME 2q31.1 DUPLICATION SYNDROME - OMIM". www.omim.org. Retrieved 2022-08-04.
- ^ Cho, Tae-Joon; Kim, Ok-Hwa; Choi, In Ho; Nishimura, Gen; Superti-Furga, Andrea; Kim, Kang Suhp; Lee, Young-Ju; Park, Woong-Yang (September 2010). "A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1". Journal of Medical Genetics. 47 (9): 638–639. doi:10.1136/jmg.2009.074690. ISSN 1468-6244. PMID 20577005. S2CID 42145408.
- ^ Ghoumid, Jamal; Andrieux, Joris; Sablonnière, Bernard; Odent, Sylvie; Philippe, Nathalie; Zanlonghi, Xavier; Saugier-Veber, Pascale; Bardyn, Thomas; Manouvrier-Hanu, Sylvie; Holder-Espinasse, Muriel (November 2011). "Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus". European Journal of Human Genetics. 19 (11): 1198–1201. doi:10.1038/ejhg.2011.95. ISSN 1476-5438. PMC 3198150. PMID 21654727.
- ^ "Entry - #613681 - CHROMOSOME 2q31.1 DUPLICATION SYNDROME - OMIM". www.omim.org. Retrieved 2022-08-04.