Marshall–Smith syndrome

Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.

Presentation
The syndrome is a rare clinical disorder.
 * Physical
 * Overgrowth
 * Accelerated skeletal maturation
 * Dysmorphic facial features
 * Prominent eyes
 * Bluish sclerae
 * Coarse eyebrows
 * Upturned nose
 * Radiologic examination
 * Accelerated osseous maturation
 * Phalangeal abnormalities
 * Tubular thinning of the long bones
 * Skull abnormalities
 * Mental
 * Often associated with intellectual disability (of variable degree)

Genotype
The first gene - NFIX - that could cause the syndrome has been identified. This gene is located on the short arm of chromosome 19 (19p13.1).

Diagnosis

 * Clinical course
 * Respiratory difficulties (like upper airway obstruction. (Note regarding clinical variability: respiratory difficulties might be absent. )
 * Pneumonia
 * Failure to thrive
 * Psychomotor retardation

Respiratory complications are often cause of death in early infancy.

Differential diagnosis
Marshall–Smith syndrome is not to be confused with:
 * Marshall syndrome
 * Malan syndrome
 * Weaver syndrome (WSS)

Translated

 * English: Marshall–Smith syndrome
 * Español: Síndrome de Marshall–Smith
 * Français: Le syndrome de Marshall–Smith
 * Italiano: Sindrome di Marshall–Smith
 * Nederlands: Marshall–Smithsyndroom, syndroom van Marshall–Smith
 * Polski: Zespół Marshalla–Smitha, Zespół Marshalla i Smitha
 * Русский: Синдром Маршалла–Смита