ORPHA:251071
8p23.1 microdeletion syndrome
Synonyms: Del(8)(p23.1) · Monosomy 8p23.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 8p23.1 microdeletion syndrome | Del(8)(p23.1) · Monosomy 8p23.1 |
| fr | Syndrome de microdélétion 8p23.1 | Del(8)(p23.1) · Monosomie 8p23.1 |
| de | Mikrodeletionssyndrom 8p23.1 | Del(8)(p23.1) · Monosomie 8p23.1 |
| es | Síndrome de microdeleción 8p23.1 | Del(8)(p23.1) · Monosomía 8p23.1 |
| it | Sindrome da microdelezione 8p23.1 | Del(8)(p23.1) · Monosomia 8p23.1 |
| nl | 8p23.1-microdeletiesyndroom | Del(8)(p23.1) · Monosomie 8p23.1 |
| pt | Síndrome de microdeleção 8p23.1 | Monossomia 8p23.1 |
| pl | Zespół mikrodelecji 8p23.1 | Del(8)(p23.1) · Monosomia 8p23.1 |
| cs | Syndrom mikrodelece 8p23.1 | Del(8)(p23.1) · Monozomie 8p23.1 |
| uk | Синдром мікроделеції 8p23.1 | Del(8)(p23.1) · Моносомія 8p23.1 |
| zh | 染色体8p23.1微缺失综合征 | 8p23.1单体 |
| tr | 8p23.1 mikrodelesyon sendromu | Del (8) (s23.1) · Monozomi 8p23.1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.81 | NTBT | index | validated |
| MONDO | 0016658 | E | validated | |
| MeSH | C537827 | E | validated | |
| UMLS | C2931638 | E | validated | |
| GARD | 3769 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:261920Partial deletion of the short arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA4 | Role in the phenotype of | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 10090897[PMID]_19606479[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
HPO phenotypes
49 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000028 | Cryptorchidism | |
| HP:0100625 | Enlarged thorax | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000047 | Hypospadias | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002465 | Poor speech | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0001182 | Tapered finger | |
| HP:0001824 | Weight loss | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000490 | Deeply set eye | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000293 | Full cheeks | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001513 | Obesity | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001763 | Pes planus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000233 | Thin vermilion border | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251071
- This record as JSON: /data/d/251071.json