Jacobsen syndrome
Última actualización 2 Aug 2023
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Jacobsen syndrome is a condition caused by a loss (deletion) of genetic material from chromosome 11. Because this deletion most commonly occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.
Descripción
Jacobsen syndrome is a condition caused by a loss (deletion) of genetic material from chromosome 11. Because this deletion most commonly occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.
The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals experience delayed development of certain skills, including speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioural problems have been reported, including compulsive behaviour (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention-deficit/hyperactivity disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorder, which is characterised by impaired communication and socialization skills.
Jacobsen syndrome is also characterised by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance.
More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cells that are necessary for blood clotting.
Other features of Jacobsen syndrome can include heart defects, such as underdevelopment of the left side of the heart (hypoplastic left heart syndrome); feeding difficulties in infancy; short stature; frequent ear and sinus infections; and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia.
The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood. Complex heart defects are a leading cause of death in people with Jacobsen syndrome. Bleeding episodes and infections can also be life-threatening in people with Jacobsen syndrome.
Patrones de herencia
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Otros nombres
11q deletion disorder
11q deletion syndrome
11q terminal deletion disorder
11q- deletion syndrome
11q23 deletion disorder
Jacobsen thrombocytopenia
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Lecturas adicionales y referencias
- Jacobsen syndrome; MedlinePlus, National Library of Medicine.
- Akshoomoff N, Mattson SN, Grossfeld PD. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet Med. 2015 Feb;17(2):143-8. doi: 10.1038/gim.2014.86. Epub 2014 Jul 24.
- Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics. 2009 Apr;10(2):89-95. doi: 10.1007/s10048-008-0157-x. Epub 2008 Oct 15.
- Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):239-50. doi: 10.1002/ajmg.c.31448. Epub 2015 Aug 18.
- Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A. 2004 Aug 15;129A(1):51-61. doi: 10.1002/ajmg.a.30090.
- Lin L, Pinto A, Wang L, Fukatsu K, Yin Y, Bamforth SD, Bronner ME, Evans SM, Nie S, Anderson RH, Terskikh AV, Grossfeld PD. ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest. Hum Mol Genet. 2022 Dec 16;31(24):4217-4227. doi: 10.1093/hmg/ddac174.
- Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9.
- Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet. 1995 Mar;56(3):676-83.
- Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23.
- Wang L, Lin L, Qi H, Chen J, Grossfeld P. Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction. Circ Res. 2022 Aug 19;131(5):371-387. doi: 10.1161/CIRCRESAHA.121.319955. Epub 2022 Jul 27.
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