20p13 microdeletion syndrome
Synonyms: 20p subtelomeric deletion syndrome · Del(20)(p13) · Monosomy 20p13
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 20p13 microdeletion syndrome | 20p subtelomeric deletion syndrome · Del(20)(p13) · Monosomy 20p13 |
| fr | Syndrome de microdélétion 20p13 | Del(20)(p13) · Monosomie 20p13 · Syndrome de délétion subtélomérique 20p |
| de | Mikrodeletionssyndrom 20p13 | Del(20)(p13) · Monosomie 20p13 · Subtelomere 20p-Deletion |
| es | Síndrome de microdeleción 20p13 | Del(20)(p13) · Monosomía 20p13 · Síndrome de deleción subtelomérica 20p |
| it | Sindrome da microdelezione 20p13 | Del(20)(p13) · Monosomia 20p13 · Sindrome da delezione 20p subtelomerica |
| nl | 20p13-microdeletiesyndroom | 20p subtelomerische deletie-syndroom · Del(20)(p13) · Monosomie 20p13 |
| pt | Síndrome de microdeleção 20p13 | Del(20)(p13) · Monossomia 20p13 · Síndrome de deleção subtelomerica 20p |
| pl | Zespół mikrodelecji 20p13 | Del(20)(p13) · Monosomia 20p13 · Zespół subtelomerowej delecji 20p |
| cs | Mikrodeleční syndrom 20p13 | Syndrom subtelomerické delece 20p · Del(20)(p13) · Monozomie 20p13 |
| uk | Синдром мікроделеції 20p13 | Синдром субтеломерної делеції 20p · Del(20)(p13) · Моносомія 20p13 |
| zh | 20p13微缺失综合征 | 20p末端着丝粒缺失综合征 |
| tr | 20p13 mikrodelesyon sendromu | Del(20)(p13) · Monozomi 20p13 · 20p subtelomerik delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0017780 | E | validated | |
| UMLS | C4750789 | 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:261992Partial deletion of the short arm of chromosome 20 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 | 22274139[PMID]_23165892[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
35 annotations · validated 2019-10-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0004325 | Decreased body weight | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002353 | EEG abnormality | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0002421 | Poor head control | |
| HP:0011220 | Prominent forehead | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001250 | Seizure | |
| HP:0001792 | Small nail | |
| HP:0000319 | Smooth philtrum | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000260 | Wide anterior fontanel | |
| Occasional (29-5%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0000490 | Deeply set eye | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0008589 | Hypoplastic helices | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0010442 | Polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000488 | Retinopathy | |
| HP:0000664 | Synophrys | |
| HP:0000506 | Telecanthus | |
| HP:0010804 | Tented upper lip vermilion | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31087544[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313781
- This record as JSON: /data/d/313781.json