20q11.2 microduplication syndrome
Synonyms: Dup(20)(q11.2)
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 20q11.2 microduplication syndrome | Dup(20)(q11.2) |
| fr | Syndrome de microduplication 20q11.2 | = en |
| de | Mikroduplikationssyndrom 20q11.2 | = en |
| es | Síndrome de microduplicación 20q11.2 | = en |
| it | Sindrome da microduplicazione 20q11.2 | = en |
| nl | 20q11.2-microduplicatiesyndroom | = en |
| pt | Síndrome de microduplicação 20q11.2 | |
| pl | Zespół mikrodupikacji 20q11.2 | = en |
| cs | Mikroduplikační syndrom 20q11.2 | = en |
| uk | Синдром мікродуплікації 20q11.2 | = en |
| zh | 20q11.2微复制综合征 | 20q11.2重复 |
| tr | 20q11.2 mikroduplikasyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0018204 | E | validated | |
| UMLS | C4706257 | 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:262995Partial duplication of the long arm of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 23704076[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
53 annotations · validated 2019-11-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0000293 | Full cheeks | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0011003 | High myopia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| HP:0100540 | Palpebral edema | |
| HP:0100539 | Periorbital edema | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000520 | Proptosis | |
| HP:0000278 | Retrognathia | |
| HP:0001773 | Short foot | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0011825 | Tented philtrum | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0200005 | Abnormal shape of the palpebral fissure | |
| HP:0000422 | Abnormality of the nasal bridge | |
| HP:0000463 | Anteverted nares | |
| HP:0000248 | Brachycephaly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006191 | Deep palmar crease | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000023 | Inguinal hernia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001377 | Limited elbow extension | |
| HP:0031008 | Lingual dystonia | |
| HP:0000054 | Micropenis | |
| HP:0000341 | Narrow forehead | |
| HP:0000639 | Nystagmus | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0000736 | Short attention span | |
| HP:0009894 | Thickened ears | |
| HP:0000325 | Triangular face | |
| HP:0000243 | Trigonocephaly | |
Annotation source: 23704076[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363659
- This record as JSON: /data/d/363659.json