Distal 22q11.2 microdeletion syndrome
Synonyms: Distal del(22)(q11.2) · Distal monosomy 22q11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal 22q11.2 microdeletion syndrome | Distal del(22)(q11.2) · Distal monosomy 22q11.2 |
| fr | Syndrome de microdélétion 22q11.2 distale | Del(22)(q11.2) distale · Monosomie 22q11.2 distale |
| de | Mikrodeletionssyndrom 22q11.2, distal | Del(22)(q11.2) · Monosomie 22q11.2, distal |
| es | Síndrome de microdeleción terminal 22q11.2 | Del(22)(q11.2) terminal · Monosomía terminal 22q11.2 |
| it | Sindrome da microdelezione 22q11.2 distale | Del(22)(q11.2) distale · Monosomia 22q11.2 distale |
| nl | Distale 22q11.2-microdeletiesyndroom | Distale del(22)(q11.2) · Distale monosomie 22q11.2 |
| pt | Síndrome de microdeleção distal 22q11.2 | Monossomia distal 22q11.2 |
| pl | Zespół mikrodelecji dystalnej 22q11.2 | Dystalna del(22)(q11.2) · Monosomia dystalna 22q11.2 |
| cs | Syndrom distální mikrodelece 22q11.2 | Distální del(22)(q11.2) · Distální monozomie 22q11.2 |
| uk | Синдром дистальної мікроделеції 22q11.2 | Дистальний del(22)(q11.2) · Дистальна моносомія 22q11.2 |
| zh | 22q11.2远端微缺失综合征 | 22q11.2远端单体 |
| tr | Distal 22q11.2 mikrodelesyon sendromu | Distal del (22) (q11.2) · Distal monozomi 22q11.2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611867 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.NY | NTBT | index | validated |
| MONDO | 0012740 | E | validated | |
| UMLS | C4518343 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262182Partial deletion of the long arm of chromosome 22 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCR | Role in the phenotype of | Assessed | HGNC:1014 | ENSG00000186716 | 151410 | 22q11.23 | BCR activator of RhoGEF and GTPase | |
| CRKL | Role in the phenotype of | Assessed | HGNC:2363 | ENSG00000099942 | 602007 | 22q11.21 | CRK like proto-oncogene, adaptor protein | |
| MAPK1 | Role in the phenotype of | Assessed | HGNC:6871 | ENSG00000100030 | 176948 | 22q11.22 | mitogen-activated protein kinase 1 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
60 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0001622 | Premature birth | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| Frequent (79-30%) | ||
| HP:0000363 | Abnormality of earlobe | |
| HP:0001817 | Absent fingernail | |
| HP:0001802 | Absent toenail | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000490 | Deeply set eye | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0002664 | Neoplasm | |
| HP:0001763 | Pes planus | |
| HP:0000307 | Pointed chin | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001660 | Truncus arteriosus | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0010296 | Ankyloglossia | |
| HP:0004942 | Aortic aneurysm | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001166 | Arachnodactyly | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000581 | Blepharophimosis | |
| HP:0002607 | Bowel incontinence | |
| HP:0006487 | Bowing of the long bones | |
| HP:0009795 | Branchial fistula | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002673 | Coxa valga | |
| HP:0000716 | Depression | |
| HP:0000324 | Facial asymmetry | |
| HP:0001510 | Growth delay | |
| HP:0002705 | High, narrow palate | |
| HP:0003307 | Hyperlordosis | |
| HP:0002721 | Immunodeficiency | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000276 | Long face | |
| HP:0000272 | Malar flattening | |
| HP:0000160 | Narrow mouth | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0001852 | Sandal gap | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004279 | Short palm | |
| HP:0100033 | Tics | |
| HP:0001770 | Toe syndactyly | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261330
- This record as JSON: /data/d/261330.json