9q21.13 microdeletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 9q21.13 microdeletion syndrome | |
| fr | Syndrome de microdélétion 9q21.13 | |
| de | Mikrodeletionssyndrom 9q21.13 | |
| es | Síndrome de microdeleción 9q21.13 | |
| it | Sindrome da microdelezione 9q21.13 | |
| nl | 9q21.13-microdeletiesyndroom | |
| pt | Síndrome de microdeleção 9q21.13 | |
| pl | Zespół mikrodelecji 9q21.13 | |
| cs | Mikrodeleční syndrom 9q21.13 | |
| uk | Синдром мікроделеції 9q21.13 | |
| zh | 9q21.13微缺失综合症 | |
| tr | 9q21.13 mikrodelesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0035173 | E | validated | |
| UMLS | C5681312 | 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:262074Partial deletion of the long arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological 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 | 10 cases | Worldwide | Case(s) | Validated | 23279911[PMID]_24355400[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23279911[PMID]_24355400[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
24 annotations · validated 2019-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0001288 | Gait disturbance | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0000126 | Hydronephrosis | |
| Frequent (79-30%) | ||
| HP:0030809 | Abnormal tongue morphology | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001385 | Hip dysplasia | |
| HP:0003186 | Inverted nipples | |
| HP:0000637 | Long palpebral fissure | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0001883 | Talipes | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0012811 | Wide nasal ridge | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0001363 | Craniosynostosis | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0010442 | Polydactyly | |
| HP:0001250 | Seizure | |
| HP:0003396 | Syringomyelia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 24501764[PMID]_25348648[PMID]_26173930[PMID]_29904177[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/531151
- This record as JSON: /data/d/531151.json