12p12.1 microdeletion syndrome
Synonyms: Del(12)(p12.1) · Monosomy 12p12.1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 12p12.1 microdeletion syndrome | Del(12)(p12.1) · Monosomy 12p12.1 |
| fr | Syndrome de microdélétion 12p12.1 | Del(12)(p12.1) · Monosomie 12p12.1 |
| de | Mikrodeletionssyndrom 12p12.1 | Del(12)(p12.1) · Monosomie 12p12.1 |
| es | Síndrome de microdeleción 12p12.1 | Del(12)(p12.1) · Monosomía 12p12.1 |
| it | Sindrome da microdelezione 12p12.1 | Del(12)(p12.1) · Monosomia 12p12.1 |
| nl | 12p12.1-microdeletiesyndroom | Del(12)(p12.1) · Monosomie 12p12.1 |
| pt | Síndrome de microdeleção 12p12.1 | Del(12)(p12.1) · Monossomia 12p12.1 |
| pl | Zespół mikrodelecji 12p12.1 | Del(12)(p12.1) · Monosomia 12p12.1 |
| cs | Mikrodeleční syndrom 12p12.1 | Del(12)(p12.1) · Monozomie 12p12.1 |
| uk | Синдром мікроделеції 12p12.1 | Del(12)(p12.1) · Моносомія 12p12.1 |
| zh | 12p12.1微缺失综合征 | 12p12.1单体 |
| tr | 12p12.1 mikrodelesyon sendromu | Del(12)(p12.1) · Monozomi 12p12.1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616803 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0017781 | E | validated | |
| UMLS | C4755260 | 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:530983Lamb-Shaffer syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:316244Partial deletion of the short arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX5 | Role in the phenotype of | Assessed | HGNC:11201 | ENSG00000134532 | 604975 | 12p12.1 | SRY-box transcription factor 5 | 22290657[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 22290657[PMID]_29477873[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29477873[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313884
- This record as JSON: /data/d/313884.json