20q11.2 microdeletion syndrome
Synonyms: Del(20)(q11.2) · Monosomy 20q11
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 20q11.2 microdeletion syndrome | Del(20)(q11.2) · Monosomy 20q11 |
| fr | Syndrome de microdélétion 20q11.2 | Del(20)(q11.2) · Délétion 20q11.2 · Monosomie 20q11.2 |
| de | Mikrodeletionssyndrom 20q11.2 | Del(20)(q11.2) · Monosomie 20q11 |
| es | Síndrome de microdeleción 20q11.2 | Del(20)(q11.2) · Monosomía 20q11 |
| it | Sindrome da microdelezione 20q11.2 | Del(20)(q11.2) · Monosomia 20q11 |
| nl | 20q11.2-microdeletiesyndroom | Del(20)(q11.2) · Monosomie 20q11 |
| pt | Síndrome de microdeleção 20q11.2 | |
| pl | Zespół mikrodelecji 20q11.2 | Del(20)(q11.2) · Monosomia 20q11 |
| cs | Mikrodeleční syndrom 20q11.2 | Del(20)(q11.2) · Monozomie 20q11 |
| uk | Синдром мікроделеції 20q11.2 | Del(20)(q11.2) · Моносомія 20q11 |
| zh | 20q11.2微缺失综合征 | 20q11单体 |
| tr | 20q11.2 mikrodelesyon sendromu | Del(20)(q11.2) · Monozomi 20q11 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018633 | E | validated | |
| UMLS | C5680063 | 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 (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:262164Partial deletion of the long arm of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:96164OBSOLETE: Non-distal monosomy 20q referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 25572454[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25572454[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.
HPO phenotypes
19 annotations · validated 2016-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000490 | Deeply set eye | |
| HP:0001263 | Global developmental delay | |
| Very frequent (99-80%) | ||
| HP:0000348 | High forehead | |
| HP:0001511 | Intrauterine growth retardation | |
| Frequent (79-30%) | ||
| HP:0000598 | Abnormality of the ear | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000708 | Atypical behavior | |
| HP:0002508 | Brainstem dysplasia | |
| HP:0012385 | Camptodactyly | |
| HP:0040019 | Finger clinodactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0011800 | Midface retrusion | |
| HP:0000322 | Short philtrum | |
| HP:0001884 | Talipes calcaneovalgus | |
| Occasional (29-5%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0001156 | Brachydactyly | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25572454[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444051
- This record as JSON: /data/d/444051.json