Marshall–Smith syndrome

Marshall-Smith syndrome, discovered in 1971, is characterized by unusual accelerated skeletal maturation and symptoms like conspicuous physical characteristics, respiratory difficulties, and intellectual disability. 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 • 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==

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==

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) ==Terminology==

Terminology

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 ==References==

Source: Wikipedia ↗

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