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Jacobsen syndrome.

Teresa Mattina1, Concetta Simona Perrotta, Paul Grossfeld

  • 1Genetica Medica, Department of Pediatrics, University of Catania, Catania, Italy. mattina@unict.it

Orphanet Journal of Rare Diseases
|March 10, 2009
PubMed
Summary
This summary is machine-generated.

Jacobsen syndrome is a rare genetic disorder caused by a deletion on chromosome 11q. It leads to developmental delays, distinctive facial features, and often affects blood cell production and organ development.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Jacobsen syndrome is a contiguous gene syndrome resulting from a partial deletion on the long arm of chromosome 11 (11q).
  • Over 200 cases have been reported, with an estimated prevalence of 1 in 100,000 births, affecting females twice as often as males.
  • The syndrome is characterized by a spectrum of clinical features, including intellectual disability, distinctive facial dysmorphism, and hematological abnormalities.

Purpose of the Study:

  • To provide a comprehensive overview of Jacobsen syndrome, encompassing its genetic basis, clinical manifestations, diagnostic approaches, and management strategies.
  • To highlight the key diagnostic criteria and differential diagnoses for Jacobsen syndrome.
  • To emphasize the multidisciplinary approach required for managing patients with Jacobsen syndrome.

Main Methods:

  • Review of reported cases and genetic analyses.
  • Clinical feature assessment including physical growth, psychomotor development, and dysmorphic features.
  • Cytogenetic analysis for diagnosis and prenatal testing via amniocentesis or chorionic villus sampling.

Main Results:

  • The deletion typically ranges from 7 to 20 Mb, with breakpoints often near 11q23.3 or the telomere, and is de novo in 85% of cases.
  • Common clinical features include growth and psychomotor retardation, characteristic facial features (e.g., hypertelorism, ptosis, V-shaped mouth), and platelet dysfunction (thrombocytopenia or pancytopenia).
  • Associated malformations involve the heart, kidneys, gastrointestinal tract, central nervous system, and skeleton, with ocular, auditory, and hormonal issues also possible.

Conclusions:

  • Jacobsen syndrome diagnosis relies on clinical findings and is confirmed by cytogenetic analysis.
  • Management requires a multidisciplinary team and comprehensive assessments, including cardiac, neurological, ophthalmological, auditory, endocrine, and immunological evaluations.
  • While significant mortality exists in early childhood due to complications like congenital heart disease, the long-term life expectancy for survivors remains undetermined.