Petrea Jacobsen 1973
Jacobsen syndromeQ93.5
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Syndrome with multiple congenital anomalies immunodeficiency, and mental retardation (so-called MCA/MR syndrome).
Occurrence/EpidemiologyThis section has been translated automatically.
More than 200 cases have been described to date. The prevalence at birth is estimated at 1:100,000, with a sex ratio m:w of 2:1.
EtiopathogenesisThis section has been translated automatically.
Contiguous-gene syndrome with heterozygous loss of many genes due to partial deletion of the long arm of a chromosome 11. The size of the deletion ranges from approximately 7 to 20 Mb. The proximal breakpoint is within or telomeric to 11q23.3, and the deletion usually extends to the telomere. In 85% of cases, the deletion is newly originated; in 15%, it results from the unbalanced segregation of a familial balanced translocation or other chromosomal rearrangements. In a minority of cases, the breakpoint is in the fragile site FRA11B.
Clinical featuresThis section has been translated automatically.
Malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system, immune system and skeleton are common.
Specifically: Pre- and postnatally delayed growth, autism, immunodeficiency (antibody deficiency), craniofacial dysmorphia (cranial deformities, ptosis, coloboma, antimongoloid eyelid axes, epicanthus, broad nasal root, short nose, V-shaped mouth, and small, low-set, posteriorly rotated ears).
Furthermore: Abnormal platelet function, thrombocytopenia or pancytopenia usually exist at birth (Paris-Trousseau bleeding disorder).
Less common are abnormalities of the eyes, hearing and endocrine system.
DiagnosisThis section has been translated automatically.
Clinical picture (intellectual deficit, craniofacial dysmorphia, thromocytopenia); cytogenetic analysis .
Differential diagnosisThis section has been translated automatically.
Turner and Noonan syndrome, acquired thrombocytopenia in sepsis.
TherapyThis section has been translated automatically.
Multidisciplinary care (pediatrics, pediatric cardiology, neurology, ophthalmology). Tube feeding may be indicated in neonates with Jacobsen's syndrome.
Progression/forecastThis section has been translated automatically.
About 20% of children die in the first two years of life, from cardiac problems; also from hemorrhage.
Case report(s)This section has been translated automatically.
Nigolian H et al (2022) reported a patient with recurrent bacterial and persistent viral infections of the respiratory system and other classic features of the syndrome. Low IgM, IgG4; B cells. T helper and naive T cells also decreased.
LiteratureThis section has been translated automatically.
- Blazina Š et al. (2016) 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. Am J Med Genet A 170:3237-3240.
- Favier R et al (2015) Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet 169:239-250.
- Nigolian H et al (2022) Immunodeficiency and lymphoma in Jacobsen syndrome. J Investig Allergol Clin Immunol doi: 10.18176/jiaci.0777.