Monosomy 18p syndrome
Synonyms: 18p- syndrome · De Grouchy syndrome type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare deletion of all or part of the short arm of chromosome 18 characterized by a highly variable phenotype, most commonly including global developmental delay, short stature, and dysmorphic facial features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 18p syndrome | 18p- syndrome · De Grouchy syndrome type 1 |
| fr | Syndrome de monosomie 18p | Syndrome 18p- · Syndrome de délétion 18p de Grouchy type 1 |
| de | Monosomie 18p | 18p-minus-Syndrom · De Grouchy-Syndrom Typ 1 · Deletionssyndrom 18p- |
| es | Síndrome de monosomía 18p | Síndrome 18p- · Síndrome de De Grouchy tipo 1 |
| it | Monosomia 18p | Sindrome 18p- · Sindrome di De Grouchy tipo 1 |
| nl | Monosomie 18p-syndroom | 18p- syndroom · Syndroom van De Grouchy type 1 |
| pt | Monossomia 18p | Síndrome 18p- · Síndrome De Grouchy tipo 1 |
| pl | Zespół monosomii 18p | Zespół 18p · Zespół De Grouchy |
| cs | Monozomie 18p | 18p- syndrom · Syndrom De Grouchyho |
| uk | Моносомія 18p | 18p-синдром · Синдром де Груші, тип 1 |
| zh | 18号染色体短臂单体 | De Grouchy综合征 |
| tr | Monozomi 18p | 18p- sendromu · De Grouchy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146390 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 7800 | E | validated | |
| MeSH | C538309 | E | validated | |
| UMLS | C0432442 | E | validated | |
| GARD | 8631 | 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 (2):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:261974Partial deletion of the short arm of chromosome 18 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | 18284672[PMID]_[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.
HPO phenotypes
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001156 | Brachydactyly | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0000668 | Hypodontia | |
| HP:0001249 | Intellectual disability | |
| HP:0000411 | Protruding ear | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0000670 | Carious teeth | |
| HP:0000175 | Cleft palate | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0100625 | Enlarged thorax | |
| HP:0000286 | Epicanthus | |
| HP:0000822 | Hypertension | |
| HP:0001252 | Hypotonia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002162 | Low posterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| HP:0000470 | Short neck | |
| HP:0000692 | Tooth malposition | |
| HP:0000465 | Webbed neck | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001596 | Alopecia | |
| HP:0000708 | Atypical behavior | |
| HP:0002960 | Autoimmunity | |
| HP:0007325 | Generalized dystonia | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000821 | Hypothyroidism | |
| HP:0001004 | Lymphedema | |
| HP:0000568 | Microphthalmia | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 18284672[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1598
- This record as JSON: /data/d/1598.json