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JBS
MCID: JCB001
MIFTS: 52
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Jacobsen Syndrome (JBS)
Categories:
Blood diseases, Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Jacobsen Syndrome:
Characteristics:Orphanet epidemiological data:58
jacobsen syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; OMIM:56
Inheritance:
isolated cases
Miscellaneous:
contiguous gene deletion syndrome 75% of affected individuals are female incidence of 1 in 100,000 births HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Eye diseases Blood diseases Bone diseases Ear diseases
ICD10:
33
Orphanet: 58
Rare eye diseases
Developmental anomalies during embryogenesis
Rare haematological diseases |
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Genetics Home Reference :
25
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion 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 have delayed development, including the development of speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (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 disorders, which are characterized by impaired communication and socialization skills.
Jacobsen syndrome is also characterized 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, 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.
MalaCards based summary : Jacobsen Syndrome, also known as jacobsen distal 11q deletion syndrome, is related to johanson-blizzard syndrome and thrombocytopenia, paris-trousseau type, and has symptoms including muscle spasticity An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome), and among its related pathways/superpathways is IL4-mediated signaling events. The drugs Fludarabine and rituximab have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has material basis in deletion of terminal chromosome 11q. NIH Rare Diseases : 52 Chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted ) copy of genetic material on the long arm (q) of chromosome 11 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 11q deletion include developmental delay , intellectual disability , behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited . In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation , where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 11q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 11. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders . OMIM : 56 Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986). (147791) Wikipedia : 74 Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11... more... |
Human phenotypes related to Jacobsen Syndrome:58 31 (show top 50) (show all 106)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:147791UMLS symptoms related to Jacobsen Syndrome:muscle spasticity |
Drugs for Jacobsen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
Cochrane evidence based reviews: jacobsen distal 11q deletion syndrome |
Genetic tests related to Jacobsen Syndrome:
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MalaCards organs/tissues related to Jacobsen Syndrome:40
Heart,
Kidney,
Eye,
Testes,
Skin,
Bone Marrow,
Bone
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Articles related to Jacobsen Syndrome:(show top 50) (show all 146)
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Genes related to Jacobsen Syndrome (3 elite genes):(show all 36) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Jacobsen Syndrome:6
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Search
GEO
for disease gene expression data for Jacobsen Syndrome.
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Cellular components related to Jacobsen Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Jacobsen Syndrome according to GeneCards Suite gene sharing:
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