ORPHA:1600
Monosomy 18q syndrome
Synonyms: 18q deletion syndrome · 18q- syndrome · De Grouchy syndrome type 2 · Deletion 18q
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 18q syndrome | 18q deletion syndrome · 18q- syndrome · De Grouchy syndrome type 2 · Deletion 18q |
| fr | Syndrome de monosomie 18q | Délétion 18q · Syndrome 18q- · Syndrome de délétion 18p de Grouchy type 2 |
| de | Monosomie 18q | 18q-Deletionssyndrom · 18q-minus-Syndrom · De Grouchy-Syndrom Typ 2 · Deletion 18q |
| es | Síndrome de monosomía 18q | Deleción 18q · Síndrome 18q- · Síndrome de De Grouchy tipo 2 · Síndrome de deleción 18q |
| it | Sindrome monosomia 18q | Delezione 18q · Sindrome 18q- · Sindrome delezione 18q · Sindrome di De Grouchy tipo 2 |
| nl | Monosomie 18q-syndroom | 18q- syndroom · 18q-deletiesyndroom · Deletie 18q · Syndroom van De Grouchy type 2 |
| pt | Monossomia 18q | Deleção 18q · Síndrome 18q- · Síndrome De Grouchy tipo 2 · Síndrome de delecção 18q |
| pl | Zespół monosomii 18q | Delecja 18q · Zespół 18q |
| cs | Monozomie 18q | 18q- syndrom · Delece 18q |
| uk | Моносомія 18q | Синдром делеції 18q · 18q-синдром · Синдром де Груші, тип 2 · Делеція 18q |
| zh | 18号染色体长臂单体 | 18q缺失综合征 |
| tr | Monozomi 18q | Delesyon 18q · 18q- sendromu · 18q delesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601808 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0011147 | E | validated | |
| MeSH | C536580 | E | validated | |
| UMLS | C0432443 | E | validated | |
| GARD | 10865 | 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 (4):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:262146Partial deletion of the long arm of chromosome 18 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Not yet validated | 21977138[PMID]_1614460[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
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HPO phenotypes
65 annotations · validated 2016-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012447 | Abnormal myelination | |
| HP:0001018 | Abnormal palmar dermatoglyphics | |
| HP:0000479 | Abnormal retinal morphology | |
| HP:0001166 | Arachnodactyly | |
| HP:0008513 | Bilateral conductive hearing impairment | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0007204 | Diffuse white matter abnormalities | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000054 | Micropenis | |
| HP:0000545 | Myopia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001763 | Pes planus | |
| HP:0002370 | Poor coordination | |
| HP:0005148 | Pulmonary valve defects | |
| HP:0008240 | Secondary growth hormone deficiency | |
| HP:0004322 | Short stature | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001182 | Tapered finger | |
| Occasional (29-5%) | ||
| HP:0005134 | Absence of the pulmonary valve | |
| HP:0004942 | Aortic aneurysm | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000414 | Bulbous nose | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000452 | Choanal stenosis | |
| HP:0001266 | Choreoathetosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0005164 | Dysplastic pulmonary valve | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0000218 | High palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000821 | Hypothyroidism | |
| HP:0001382 | Joint hypermobility | |
| HP:0011596 | Left aortic arch with right descending aorta and right ductus arteriosus | |
| HP:0012382 | Left-to-right shunt | |
| HP:0000294 | Low anterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000194 | Open mouth | |
| HP:0000767 | Pectus excavatum | |
| HP:0000448 | Prominent nose | |
| HP:0001684 | Secundum atrial septal defect | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000322 | Short philtrum | |
| HP:0001533 | Slender build | |
| HP:0000486 | Strabismus | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
| Very rare (<4-1%) | ||
| HP:0009592 | Astrocytoma | |
| HP:0003413 | Atlantoaxial abnormality | |
Annotation source: 23707655[PMID]_5507053[PMID]_8488839[PMID]_16100728[PMID]_7358761[PMID]_26552569[PMID]_11134092[PMID]_6620023[PMID]_11177369[PMID]_15671099[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1600
- This record as JSON: /data/d/1600.json