20q13.33 microdeletion syndrome
Synonyms: Del(20)(q13.33) · Monosomy 20q13.33
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 20q13.33 microdeletion syndrome | Del(20)(q13.33) · Monosomy 20q13.33 |
| fr | Syndrome de microdélétion 20q13.33 | Del(20)(q13.33) · Monosomie 20q13.33 |
| de | Mikrodeletionssyndrom 20q13.33 | Del(20)(q13.33) · Monosomie 20q13 · Monosomie 20q13.33 |
| es | Síndrome de microdeleción 20q13.33 | Del(20)(q13.33) · Monosomía 20q13.33 |
| it | Sindrome da microdelezione 20q13.33 | Del(20)(q13.33) · Monosomia 20q13.33 |
| nl | 20q13.33-microdeletiesyndroom | Del(20)(q13.33) · Monosomie 20q13.33 |
| pt | Síndrome de microdeleção 20q13 | |
| pl | Zespół mikrodelecji 20q13.33 | Del(20)(q13.33) · Monosomia 20q13.33 |
| cs | Syndrom mikrodelece 20q13.33 | Del(20)(q13.33) · Monozomie 20q13.33 |
| uk | Синдром мікроделеції 20q13.33 | Del(20)(q13.33) · Моносомія 20q13.33 |
| zh | 20q13.33微缺失综合征 | 20q13.33单体 |
| tr | 20q13.33 mikrodelesyon sendromu | Del (20) (q13.33) · Monozomi 20q13.33 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.L0 | NTBT | index | validated |
| MONDO | 0016843 | E | validated | |
| UMLS | C4518823 | 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 (1):
- ORPHA:262164Partial deletion of the long arm of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:96152OBSOLETE: Distal monosomy 20q referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
43 annotations · validated 2017-01-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002813 | Abnormality of limb bone morphology | |
| HP:0000750 | Delayed speech and language development | |
| HP:0012520 | Dilation of Virchow-Robin spaces | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0006385 | Short lower limbs | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0001713 | Abnormal cardiac ventricle morphology | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0000414 | Bulbous nose | |
| HP:0012858 | Decreased scrotal rugation | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0000286 | Epicanthus | |
| HP:0000297 | Facial hypotonia | |
| HP:0001822 | Hallux valgus | |
| HP:0002573 | Hematochezia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0002827 | Hip dislocation | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0000047 | Hypospadias | |
| HP:0000341 | Narrow forehead | |
| HP:0000460 | Narrow nose | |
| HP:0001562 | Oligohydramnios | |
| HP:0001763 | Pes planus | |
| HP:0009899 | Prominent crus of helix | |
| HP:0000520 | Proptosis | |
| HP:0000960 | Sacral dimple | |
| HP:0000319 | Smooth philtrum | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001182 | Tapered finger | |
| HP:0000233 | Thin vermilion border | |
| HP:0000325 | Triangular face | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 26030193[PMID]_20805988[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261311
- This record as JSON: /data/d/261311.json