9p13 microdeletion syndrome
Synonyms: Del(9)(p13) · Monosomy 9p13
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 9p13 microdeletion syndrome | Del(9)(p13) · Monosomy 9p13 |
| fr | Syndrome de microdélétion 9p13 | Del(9)(p13) · Monosomie 9p13 |
| de | Mikrodeletionssyndrom 9p13 | Del(9)(p13) · Monosomie 9p13 |
| es | Síndrome de microdeleción 9p13 | Del(9)(p13) · Monosomía 9p13 |
| it | Sindrome da microdelezione 9p13 | Del(9)(p13) · Monosomia 9p13 |
| nl | 9p13-microdeletiesyndroom | Del(9)(p13) · Monosomie 9p13 |
| pt | Síndrome de microdeleção 9p13 | |
| pl | Zespół mikrodelecji 9p13 | Del(9)(p13) · Monosomia 9p13 |
| cs | Mikrodeleční syndrom 9p13 | Del(9)(p13) · Monozomie 9p13 |
| uk | Синдром мікроделеції 9p13 | Del(9)(p13) · Моносомія 9p13 |
| zh | 9p13微缺失综合征 | 9p13单体 |
| tr | 9p13 mikrodelesyon sendromu | Del(9)(p13) · Monozomi 9p13 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0017928 | E | validated | |
| UMLS | C4707097 | 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:261929Partial deletion of the short arm of chromosome 9 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 | 4 cases | Worldwide | Case(s) | Validated | 22887577[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
32 annotations · validated 2019-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0003763 | Bruxism | |
| HP:0000308 | Microretrognathia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001336 | Myoclonus | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:3000022 | Abnormality of cartilage of external ear | |
| HP:0000248 | Brachycephaly | |
| HP:0000565 | Esotropia | |
| HP:0002378 | Hand tremor | |
| HP:0000369 | Low-set ears | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0010489 | Absent palmar crease | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000958 | Dry skin | |
| HP:0000286 | Epicanthus | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000218 | High palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001795 | Hyperconvex nail | |
| HP:0000540 | Hypermetropia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001387 | Joint stiffness | |
| HP:0011330 | Metopic synostosis | |
| HP:0000826 | Precocious puberty | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002650 | Scoliosis | |
| HP:0000574 | Thick eyebrow | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 22887577[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324313
- This record as JSON: /data/d/324313.json