Mosaic trisomy 9 syndrome
Synonyms: Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 9 syndrome | Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism |
| fr | Syndrome de trisomie 9 en mosaïque | |
| de | Mosaik-Trisomie 9 | Mosaik-Trisomie Chromosom 9 |
| es | Síndrome de trisomía 9 en mosaico | Trisomía del cromosoma 9 en mosaico |
| it | Sindrome trisomia 9 in mosaico | Trisomia 9 in mosaico · Trisomia del cromosoma 9 in mosaico |
| nl | Mozaïektrisomie 9-syndroom | Mozaïektrisomie chromosoom 9 · Trisomie 9 mozaïcisme |
| pt | Trissomia 9 em mosaicismo | |
| pl | Zespół mozaikowej trisomii chromosomu 9 | = en |
| cs | Mozaika trizomie 9 | = en |
| uk | Мозаїчна трисомія 9 | Мозаїчна трисомія хромосоми 9 · Трисомія 9 мозаїцизм |
| zh | 9号染色体嵌合型三体 | 嵌合性9号染色体三体 |
| tr | Mozaik trizomi 9 | Trizomi 9 mozaisizm · 9. kromozomun mozaik trizomisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.1 | NTBT | attributed | validated |
| ICD-11 | LD40.Y | NTBT | attributed | validated |
| MONDO | 0020490 | E | validated | |
| MeSH | C535454 | E | validated | |
| UMLS | C2930908 | E | validated | |
| GARD | 43 | 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 (1):
- ORPHA:98131Total autosomal trisomy 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 |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 22249800[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22249800[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
62 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000568 | Microphthalmia | |
| Frequent (79-30%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0002006 | Facial cleft | |
| HP:0040019 | Finger clinodactyly | |
| HP:0000218 | High palate | |
| HP:0002827 | Hip dislocation | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0012815 | Hypoplastic female external genitalia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000239 | Large fontanelles | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000347 | Micrognathia | |
| HP:0001562 | Oligohydramnios | |
| HP:0001838 | Rocker bottom foot | |
| HP:0000470 | Short neck | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0100752 | Abnormal liver lobulation | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0001746 | Asplenia | |
| HP:0001631 | Atrial septal defect | |
| HP:0004422 | Biparietal narrowing | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0007957 | Corneal opacity | |
| HP:0000476 | Cystic hygroma | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0006191 | Deep palmar crease | |
| HP:0001869 | Deep plantar creases | |
| HP:0001651 | Dextrocardia | |
| HP:0003042 | Elbow dislocation | |
| HP:0001706 | Endocardial fibroelastosis | |
| HP:0002937 | Hemivertebrae | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000126 | Hydronephrosis | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000316 | Hypertelorism | |
| HP:0000601 | Hypotelorism | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001561 | Polyhydramnios | |
| HP:0000269 | Prominent occiput | |
| HP:0000110 | Renal dysplasia | |
| HP:0002650 | Scoliosis | |
| HP:0001195 | Single umbilical artery | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001792 | Small nail | |
| HP:0002414 | Spina bifida | |
| HP:0005815 | Supernumerary ribs | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000465 | Webbed neck | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21975655[PMID]_22249800[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99776
- This record as JSON: /data/d/99776.json