Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Syndactyly-nystagmus syndrome due to 2q31.1 duplication
Other names2q31.1 microduplication syndrome
The microduplication associated with this condition is autosomal dominant
SpecialtyMedical genetics
SymptomsMainly syndactyly and congenital bilateral pendular nystagmus
Complicationsnone
Usual onsetbirth
Durationlifelong (unless surgically corrected)
Causesgenetic mutation (more specifically an autosomal dominant chromosomal microduplication containing HOX genes)
Preventionnone
Prognosisgood
Frequencyrare
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]

Less common symptoms include:[2]

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

  1. ^ 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)
  2. ^ a b "Clinical Synopsis - #613681 - CHROMOSOME 2q31.1 DUPLICATION SYNDROME - OMIM". www.omim.org. Retrieved 2022-08-04.
  3. ^ 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" (PDF). Journal of Medical Genetics. 47 (9): 638–639. doi:10.1136/jmg.2009.074690. ISSN 1468-6244. PMID 20577005. S2CID 42145408.
  4. ^ 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.
  5. ^ "Entry - #613681 - CHROMOSOME 2q31.1 DUPLICATION SYNDROME - OMIM". www.omim.org. Retrieved 2022-08-04.

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