Archives: Conditions A-Z
Nephronophthisis
Commonest genetic cause of end-stage renal disease in children, a ciliopathy.
Netherton syndrome
Severe ichthyosiform disorder with hair-shaft defect and atopy.
Neuroblastoma
Embryonal tumor of the sympathetic nervous system, commonest extracranial solid tumor of childhood.
Neurofibromatosis type 1
A common tumour-predisposition syndrome; a targeted therapy is approved for symptomatic inoperable plexiform neurofibromas.
Noonan syndrome
A RAS-MAPK pathway disorder; care is multidisciplinary, with growth hormone used for short stature in selected children.
Neuromyelitis optica spectrum disorder
An autoimmune astrocytopathy distinct from multiple sclerosis; several targeted relapse-prevention therapies are approved.
Neurofibromatosis type 2
Schwannoma-predisposition with bilateral vestibular schwannomas, meningiomas and ependymomas.
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