ORPHA:77301
Monosomy 9q22.3 syndrome
Synonyms: Microdeletion 9q22.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 9q22.3 syndrome | Microdeletion 9q22.3 |
| fr | Syndrome de monosomie 9q22.3 | Microdélétion 9q22.3 |
| de | Mikrodeletionssyndrom 9q22.3 | |
| es | Síndrome de monosomía 9q22.3 | Microdeleción 9q22.3 |
| it | Sindrome monosomia 9q22.3 | Microdelezione 9q22.3 |
| nl | Monosomie 9q22.3-syndroom | Microdeletie 9q22.3 |
| pt | Microdeleção 9q22.3 | |
| pl | Zespół monosomii 9q22.3 | Mikrodelecja 9q22.3 |
| cs | Monozomie 9q22.3 | Mikrodelece 9q22.3 |
| uk | Моносомія 9q22.3 | Мікроделеція 9q22.3 |
| zh | 9q22.3单倍体 | 9q22.3微缺失 |
| tr | Monozomi 9q22.3 | Mikrodelesyon 9q22.3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.90 | NTBT | index | validated |
| MONDO | 0019179 | E | validated | |
| MeSH | C579873 | E | validated | |
| UMLS | C3711390 | 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 (3):
- ORPHA:262074Partial deletion of the long arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTCH1 | Role in the phenotype of | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | 23169491[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 42 cases | Worldwide | Case(s) | Validated | 21850767[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21850767[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.
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HPO phenotypes
46 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0005462 | Calcification of falx cerebri | |
| HP:0010617 | Cardiac fibroma | |
| HP:0000518 | Cataract | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000752 | Hyperactivity | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001520 | Large for gestational age | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0002885 | Medulloblastoma | |
| HP:0011330 | Metopic synostosis | |
| HP:0000568 | Microphthalmia | |
| HP:0000160 | Narrow mouth | |
| HP:0010603 | Odontogenic keratocysts of the jaw | |
| HP:0000202 | Orofacial cleft | |
| HP:0010618 | Ovarian fibroma | |
| HP:0010610 | Palmar pits | |
| HP:0000767 | Pectus excavatum | |
| HP:0010612 | Plantar pits | |
| HP:0000488 | Retinopathy | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0000098 | Tall stature | |
| HP:0000243 | Trigonocephaly | |
| HP:0001537 | Umbilical hernia | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0002308 | Chiari malformation | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000238 | Hydrocephalus | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000343 | Long philtrum | |
| HP:0010442 | Polydactyly | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0009894 | Thickened ears | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002667 | Nephroblastoma | |
| HP:0002859 | Rhabdomyosarcoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21850767[PMID]_17019435[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77301
- This record as JSON: /data/d/77301.json