Magrassi-Leonardi Syndrome

Magrassi-Leonardi syndrome (surnames Magrassi and Leonardi; synonyms: Magrassi–Leonardi syndrome, MLS) is a rare genetic disease characterized by mental retardation, muscle hypotonia, disproportionately short stature and skeletal abnormalities.

This autosomal recessive disorder was first described in 1975 by Italian doctors F. Magrassi and G. Leonardi. The reason is mutations in the OCRL1 gene on the X chromosome, which encodes phosphatidylinositol 4,5-bisphosphate 5-phosphatase.

Main symptoms: delayed mental and physical development, muscle hypotonia, disproportionately short stature, skeletal abnormalities (scoliosis, chest deformities), renal tubular defects.

Treatment is mainly symptomatic and supportive. The prognosis depends on the severity of symptoms.

Magrassi-Leonardi syndrome is a rare genetic disease characterized by delayed psychomotor and physical development, as well as the presence of various abnormalities of the skeleton and internal organs.

This disease was first described in 1975 by Italian doctors Magrassi and Leonardi. The syndrome is inherited in an autosomal recessive manner and is associated with mutations in the OSTN gene.

The main symptoms of Magrassi-Leonardi syndrome:

1. Stunting and low birth weight
2. Slow physical and mental development
3. Skeletal anomalies - spinal defects, chest asymmetry
4. Heart, kidney, liver defects
5. Hip dysplasia
6. Anomalies of the facial skeleton
7. Ptosis (drooping eyelids)
8. Convulsions

Diagnosis is based on the clinical picture and molecular genetic analysis. Treatment is mainly symptomatic and includes surgical correction of skeletal and internal organ abnormalities, drug therapy for seizures, and physical therapy. The prognosis is generally unfavorable; most patients die in early childhood due to the severity of damage to internal organs.