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
- * 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
Genotype
The first gene - NFIX - that could cause the syndrome has been identified. This gene is located on the short arm of chromosome 19.Diagnosis
- Clinical course
- * Respiratory difficulties
- * Pneumonia
- * Failure to thrive
- * Psychomotor retardation
Differential diagnosis
Marshall–Smith syndrome is not to be confused with: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