ORPHA:2308
Jacobsen syndrome
Synonyms: 11q terminal deletion syndrome · Chromosome 11q deletion syndrome · Del(11)(q23.3) · Del(11)(qter) · Distal deletion 11q · Distal monosomy 11q · Monosomy 11qter · Telomeric deletion 11q
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal
- Status
- active
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (<i>11q</i>) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Jacobsen syndrome | 11q terminal deletion syndrome · Chromosome 11q deletion syndrome · Del(11)(q23.3) · Del(11)(qter) · Distal deletion 11q · Distal monosomy 11q · Monosomy 11qter · Telomeric deletion 11q |
| fr | Syndrome de Jacobsen | Del(11)(q23.3) · Del(11)(qter) · Délétion distale 11q · Délétion télomérique 11q · Monosomie 11qter · Monosomie distale 11q · Syndrome de délétion 11q terminale · Syndrome de délétion du chromosome 11q |
| de | Jacobsen-Syndrom | Terminale Deletion 11q · 11q-Deletionssyndrom · 11q-Syndrom · Del(11)(q23.3) · Del(11)(qter) · Distale Deletion 11q · Distale Monosomie 11q · Monosomie 11qter · Telomere Deletion 11q |
| es | Síndrome de Jacobsen | Del(11)(q23.3) · Del(11)(qter) · Deleción telomérica 11q · Deleción terminal 11q · Monosomía 11qter · Monosomía terminal 11q · Síndrome de deleción del cromosoma 11q · Síndrome de deleción terminal 11q |
| it | Sindrome di Jacobsen | Del(11)(q23.3) · Del(11)(qter) · Delezione 11q distale · Delezione 11q telomerica · Monosomia 11q distale · Monosomia 11qter · Sindrome da delezione terminale 11q · Sindrome da delezione cromosomica 11q · Delezione telomerica 11q · Sindrome da delezione del cromosoma 11q |
| nl | Syndroom van Jacobsen | 11q-terminale deletiesyndroom · Chromosoom 11q-deletiesyndroom · Del(11)(q23.3) · Del(11)(qter) · Distale deletie 11q · Distale monosomie 11q · Monosomie 11qter · Telomerische deletie 11q |
| pt | Síndrome Jacobsen | Del(11)(q23.3) · Del(11)(qter) · Deleção distal 11q · Deleção telomérica 11q · Monossomia 11qter · Monossomia distal 11q · Síndrome de deleção cromossoma 11q |
| pl | Zespół Jacobsena | Del(11)(q23.3) · Del(11)(qter) · Dystalna delecja 11q · Dystalna monosomia 11q · Monosomia 11qter · Telomerowa delecja 11q |
| cs | Jacobsenův syndrom | Del(11)(q23.3) · Del(11)(qter) · Distální mikrodelece 11q · Distální monozomie 11q · Monozomie 11qter · Telomerická delece 11q |
| uk | Синдром Якобсена | Синдром делеції терміналу 11q · Синдром делеції хромосоми 11q · Del(11)(q23.3) · Del(11)(qter) · Дистальна делеція 11q · Дистальна моносомія 11q · Моносомія 11qter · Делеція теломерної ділянки 11q |
| zh | Jacobsen综合征 | 11号染色体长臂远端端粒缺失 |
| tr | Jacobsen sendromu | Del(11)(qter) · Del(11)(q23.3) · Monozomi 11qter · Distal delesyon 11q · Distal monozomi 11q · Telomerik delesyon 11q |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147791 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.B0 | NTBT | index | validated |
| MONDO | 0007838 | E | validated | |
| MeSH | D054868 | E | validated | |
| UMLS | C0795841 | E | validated | |
| GARD | 307 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:262092Partial deletion of the long arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
rare genetic diseases; rare immunological diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLI1 | Role in the phenotype of | Assessed | HGNC:3749 | ENSG00000151702 | 193067 | 11q24.3 | Fli-1 proto-oncogene, ETS transcription factor | 26285164[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | United States | Value and class | Validated | [EXPERT]_19267933[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
76 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000463 | Anteverted nares | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0010761 | Broad columella | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001847 | Long hallux | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000482 | Microcornea | |
| HP:0000921 | Missing ribs | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001622 | Premature birth | |
| HP:0000508 | Ptosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0001863 | Toe clinodactyly | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0004378 | Abnormality of the anus | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001734 | Annular pancreas | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0000518 | Cataract | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001522 | Death in infancy | |
| HP:0002247 | Duodenal atresia | |
| HP:0004397 | Ectopic anus | |
| HP:0000656 | Ectropion | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000625 | Eyelid coloboma | |
| HP:0001161 | Hand polydactyly | |
| HP:0002827 | Hip dislocation | |
| HP:0000126 | Hydronephrosis | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0000023 | Inguinal hernia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000612 | Iris coloboma | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001302 | Pachygyria | |
| HP:0002021 | Pyloric stenosis | |
| HP:0100753 | Schizophrenia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0002414 | Spina bifida | |
| HP:0001883 | Talipes | |
| HP:0000243 | Trigonocephaly | |
| HP:0000465 | Webbed neck | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2308
- This record as JSON: /data/d/2308.json