Split hand split foot-nystagmus syndrome

Split hand split foot-nystagmus syndrome (SHSFNS) is a rare genetic disorder characterized by the combination of split hand/split foot malformation (SHFM) and nystagmus, a condition that causes involuntary eye movement.

Overview[edit | edit source]

SHSFNS is a congenital disorder, meaning it is present from birth. The syndrome is extremely rare, with only a handful of cases reported in the medical literature. The exact cause of SHSFNS is currently unknown, but it is believed to be due to a combination of genetic and environmental factors.

Symptoms[edit | edit source]

The primary symptoms of SHSFNS are the presence of SHFM and nystagmus. SHFM, also known as ectrodactyly, is a condition where the central digits of the hand or foot are missing, and the remaining digits are fused together. This gives the appearance of a lobster claw, hence the alternative name "lobster claw syndrome". Nystagmus is a condition characterized by involuntary, rapid, rhythmic movement of the eyes. This can result in reduced vision and depth perception, and can affect balance and coordination.

Diagnosis[edit | edit source]

Diagnosis of SHSFNS is based on the presence of the characteristic symptoms of SHFM and nystagmus. Genetic testing may be used to confirm the diagnosis and to identify any potential genetic mutations that may be causing the syndrome.

Treatment[edit | edit source]

There is currently no cure for SHSFNS. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include physical therapy, occupational therapy, and special education services for those with vision problems due to nystagmus. Surgery may be considered in some cases to improve the function and appearance of the hands and feet.

NIH genetic and rare disease info[edit source]

NIH info on Split hand split foot-nystagmus syndrome

Split hand split foot-nystagmus syndrome is a rare disease.

Split hand split foot-nystagmus syndrome Resources
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v t e Genetic disorders
General Concepts	Genetics Mutation Chromosome Genetic variation Heritability
Types and Disorders	Autosomal dominant Huntington's disease Marfan syndrome Autosomal recessive Cystic fibrosis Sickle cell disease X-linked dominant Rett syndrome X-linked recessive Hemophilia Color blindness Mitochondrial Leber's hereditary optic neuropathy
Diagnosis and Treatment	Genetic testing Gene therapy Personalized medicine Prenatal diagnosis
Related Topics	Evolutionary biology Medical genetics Pharmacogenomics Population genetics
This genetic disorder related article is a stub.

v t e Rare and genetic diseases
Rare diseases - Split hand split foot-nystagmus syndrome
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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine