ORPHA:444002
11q22.2q22.3 microdeletion syndrome
Synonyms: Del(11)(q22.2q22.3) · Monosomy 11q22.2q22.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 11q22.2q22.3 microdeletion syndrome | Del(11)(q22.2q22.3) · Monosomy 11q22.2q22.3 |
| fr | Syndrome de microdélétion 11q22.2q22.3 | Del(11)(q22.2q22.3) · Délétion 11q22.2q22.3 · Monosomie 11q22.2q22.3 |
| de | Mikrodeletionssyndrom 11q22.2q22.3 | Del(11)(q22.2q22.3) · Monosomie 11q22.2q22.3 |
| es | Síndrome de microdeleción 11q22.2q22.3 | Del(11)(q22.2q22.3) · Monosomía 11q22.2q22.3 |
| it | Sindrome da microdelezione 11q22.2q22.3 | Del(11)(q22.2q22.3) · Monosomia 11q22.2-q22.3 · Monosomia 11q22.2q22.3 · Sindrome da delezione 11q22.2-q22.3 |
| nl | 11q22.2q22.3-microdeletiesyndroom | Del(11)(q22.2q22.3) · Monosomie 11q22.2q22.3 |
| pt | Síndrome de microdeleção 11q22.2q22.3 | |
| pl | Zespół mikrodelecji 11q22.2q22.3 | Del(11)(q22.2q22.3) · Monosomia 11q22.2q22.3 · Monosomia 11q22.2-q22.3 · Zespół delecji11q22.2-q22.3 |
| cs | Syndrom mikrodelece 11q22.2q22.3 | Del(11)(q22.2q22.3) · Monozomie 11q22.2-q22.3 · Monozomie 11q22.2q22.3 · 11q22.2-q22.3 deleční syndrom |
| uk | Синдром мікроделеції 11q22.2q22.3 | Del(11)(q22.2q22.3) · Моносомія 11q22.2q22.3 |
| zh | 11q22.2q22.3微缺失综合征 | 11q22.2q22.3单体 |
| tr | 11q22.2q22.3 mikrodelesyon sendromu | Del(11)(q22.2q22.3) · Monozomi 11q22.2q22.3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018632 | E | validated | |
| UMLS | C5680062 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262092Partial deletion of the long arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25735893[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25735893[PMID] |
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
44 annotations · validated 2016-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| Occasional (29-5%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000753 | Autism with high cognitive abilities | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002194 | Delayed gross motor development | |
| HP:0012448 | Delayed myelination | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0000286 | Epicanthus | |
| HP:0011368 | Epidermal thickening | |
| HP:0011968 | Feeding difficulties | |
| HP:0001028 | Hemangioma | |
| HP:0002705 | High, narrow palate | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001513 | Obesity | |
| HP:0030190 | Oral motor hypotonia | |
| HP:0200034 | Papule | |
| HP:0002421 | Poor head control | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0000817 | Reduced eye contact | |
| HP:0001250 | Seizure | |
| HP:0000736 | Short attention span | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| Very rare (<4-1%) | ||
| HP:0000708 | Atypical behavior | |
Annotation source: 25735893[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444002
- This record as JSON: /data/d/444002.json