Trisomy 9p syndrome
Synonyms: Duplication 9p · Duplication of the short arm of chromosome 9 · Trisomy of the short arm of chromosome 9
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 9p syndrome | Duplication 9p · Duplication of the short arm of chromosome 9 · Trisomy of the short arm of chromosome 9 |
| fr | Syndrome de trisomie 9p | Duplication 9p · Trisomie du bras court du chromosome 9 |
| de | Duplikation 9p partial | Trisomie 9p partielle |
| es | Síndrome de trisomía 9p | Dupliación 9p · Duplicación del brazo corto del cromosoma 9 · Trisomía del brazo corto del cromosoma 9 |
| it | Sindrome trisomia 9p | Duplicazione 9p · Trisomia del braccio corto del cromosoma 9 · Duplicazione del braccio corto del cromosoma 9 |
| nl | Trisomie 9p-syndroom | Duplicatie 9p · Korte arm van chromosoom 9 duplicatie · Korte arm van chromosoom 9 trisomie |
| pt | Trissomia 9p | Duplicação parcial 9p · Trissomia parcial 9p |
| pl | Zespół trisomii 9p | Duplikacja 9p · Duplikacja krótkiego ramienia chromosomu 10 · Trisomia krótkiego ramienia chromosomu 9 |
| cs | Trizomie 9p | Duplikace 9p · Duplikace krátkého raménka chromozomu 9 · Trizomie krátkého raménka chromozomu 9 · Syndrom Rethoreové |
| uk | Трисомія 9p | Дуплікація 9p · Дуплікація короткого плеча хромосоми 9 · Трисомія короткого плеча хромосоми 9 |
| zh | 9号染色体短臂三体 | 9号染色体短臂三体 |
| tr | Trizomi 9p | Duplikasyon 9p · 9. kromozomun kısa kolunun trizomisi · 9. kromozomun kısa kolunun duplikasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| ICD-11 | LD41.81 | E | specific | validated |
| MONDO | 0016526 | E | validated | |
| UMLS | C0265428 | 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 (4):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:262767Partial duplication/triplication of the short arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
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 | 150 cases | Worldwide | Case(s) | Validated | 25526829[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25526829[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0005105 | Abnormal nasal morphology | |
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000248 | Brachycephaly | |
| HP:0000490 | Deeply set eye | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001263 | Global developmental delay | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000411 | Protruding ear | |
| HP:0000470 | Short neck | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000678 | Dental crowding | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0000316 | Hypertelorism | |
| HP:0011079 | Impacted tooth | |
| HP:0002808 | Kyphosis | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0100335 | Non-midline cleft of the upper lip | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/236
- This record as JSON: /data/d/236.json