Split hand split foot-nystagmus syndrome

Split-hand/split-foot-nystagmus syndrome

Autosomal dominant inheritance pattern

Split-hand/split-foot-nystagmus syndrome is a rare genetic disorder characterized by the presence of limb malformations and eye movement abnormalities. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

The primary features of split-hand/split-foot-nystagmus syndrome include:

Limb Malformations

Individuals with this syndrome typically exhibit ectrodactyly, which is a congenital malformation where the central digits are absent, resulting in a "split" appearance of the hands and/or feet. This condition is also known as "lobster-claw" deformity. The severity of the limb malformations can vary significantly among affected individuals, ranging from mild to severe.

Nystagmus

Nystagmus is an involuntary, rapid, and repetitive movement of the eyes. In split-hand/split-foot-nystagmus syndrome, this symptom can affect vision and may be present from birth. The type and severity of nystagmus can vary, and it may be associated with other visual disturbances.

Genetic Basis

The genetic cause of split-hand/split-foot-nystagmus syndrome is linked to mutations in specific genes that are involved in limb and eye development. The exact genetic mutations responsible for this syndrome are still under investigation, but it is known to follow an autosomal dominant inheritance pattern. This means that an affected individual has a 50% chance of passing the condition on to their offspring.

Diagnosis

Diagnosis of split-hand/split-foot-nystagmus syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. Early diagnosis is important for managing symptoms and providing genetic counseling to affected families.

Management

Management of split-hand/split-foot-nystagmus syndrome involves a multidisciplinary approach, including:

• Orthopedic care: Surgical interventions may be necessary to improve hand and foot function and appearance.
• Ophthalmologic care: Treatment for nystagmus may include corrective lenses, vision therapy, or, in some cases, surgery.
• Genetic counseling: Families may benefit from genetic counseling to understand the inheritance pattern and implications for future pregnancies.

Related Pages

• Ectrodactyly
• Nystagmus
• Autosomal dominant
• Genetic disorder