Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication is a rare genetic disorder characterized by the presence of syndactyly, a condition where two or more digits are fused together, and nystagmus, an involuntary eye movement. This syndrome is caused by a microduplication at the 2q31.1 location of the human genome.

Symptoms and Signs[edit | edit source]

The primary symptoms of Syndactyly-nystagmus syndrome due to 2q31.1 microduplication are the presence of syndactyly and nystagmus. Syndactyly is a condition where two or more digits are fused together. This can occur in any digit but is most common in the hands and feet. Nystagmus is a condition characterized by involuntary eye movement. This can result in reduced vision and depth perception and can affect balance and coordination.

Causes[edit | edit source]

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication is caused by a microduplication at the 2q31.1 location of the human genome. A microduplication is a type of copy number variation where a small piece of chromosome is duplicated. The 2q31.1 location refers to the specific location on chromosome 2 where the duplication occurs.

Diagnosis[edit | edit source]

Diagnosis of Syndactyly-nystagmus syndrome due to 2q31.1 microduplication is typically made through genetic testing. This can include karyotyping, a test that provides a picture of an individual's chromosomes, or microarray analysis, a test that can detect small duplications and deletions in the genome.

Treatment[edit | edit source]

There is currently no cure for Syndactyly-nystagmus syndrome due to 2q31.1 microduplication. Treatment is focused on managing the symptoms of the condition. This can include surgery to separate fused digits in cases of syndactyly, and vision therapy or surgery to manage nystagmus.

NIH genetic and rare disease info[edit source]

NIH info on Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication is a rare disease.

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General Concepts	Genetics Mutation Chromosome Genetic variation Heritability
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Rare diseases - Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
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