N syndrome

Other Names: NSX; Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia

N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Epidemiology

Three cases have been described so far.

Cause

Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome.

Inheritance

X-linked recessive inheritance

X-linked recessive transmission has been proposed.

Signs and symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal eyelid morphology(Abnormality of the eyelid)
• Bilateral sensorineural hearing impairment
• Cryptorchidism(Undescended testes)
• Global developmental delay
• Hypospadias
• Intellectual disability(Mental deficiency)
• Megalocornea(Enlarged cornea)
• Spasticity(Involuntary muscle stiffness, contraction, or spasm)
• T-cell lymphoma/leukemia
• Visual impairment
• Impaired vision

NIH genetic and rare disease info

• NIH info on N syndrome

N syndrome is a rare disease.

N syndrome Resources
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