Diseases

Meningococcemia

Meningococcemia is an acute and potentially life-threatening infection of the bloodstream that commonly leads to vasculitis (inflammation of the blood vessels).

Meningoencephalocele

Meningoencephalocele: A very rare developmental disorder where a part of the membrane that covers the brain and or part of the brain itself protrudes through an abnormal opening in the skull. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.

Meningomyelocele

Meningomyelocele: A very rare developmental disorder where a part of the membrane that covers the spinal cord and part of the spinal cord itself protrudes through an abnormal opening in the bones of the spinal column. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.

Menkes syndrome

Menkes syndrome (MNK, Menkes disease, copper transport disease, steely hair disease, kinky hair disease, Menkes kinky hair syndrome), is a disorder that affects copper levels in the body, leading to copper deficiency. It is an x-linked recessive disorder, and is therefore considerably more common in males: females require two defective alleles to develop the disease.

The disorder was originally described by John Hans Menkes (1928–2008) et al. in 1962.

Mental retardation Buenos Aires type

Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.

Mental retardation coloboma slimness

Mental retardation - coloboma - slimness: A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build.

Mental retardation contractural arachnodactyly

Mental retardation - contractural arachnodactyly: A rare disorder characterized mainly by the association of mental retardation with long thin fingers which were permanently flexed.

Mental retardation epilepsy

A very rare syndrome characterized mainly by mental retardation, epilepsy and a bulbous nose. The condition has been reported in only two families.

Mental retardation epilepsy bulbous nose

Mental retardation - epilepsy - bulbous nose: A very rare syndrome characterized mainly by mental retardation, epilepsy and a bulbous nose. The condition has been reported in only two families.

Mental retardation Mietens Weber type

Mental retardation, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.