Paternal 20q13.2q13.3 microdeletion syndrome
Synonyms: Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paternal 20q13.2q13.3 microdeletion syndrome | Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3 |
| fr | Syndrome de microdélétion 20q13.2q13.3 paternelle | Del(20)(q13.2q13.3) paternelle · Monosomie paternelle 20q13.q13.3 |
| de | Mikrodeletionssyndrom 20q13.2q13.3, paternal | Paternale Monosomie 20q13.2q13.3 · del(20)(q13.2q13.3), paternal |
| es | Síndrome de microdeleción paterna 20q13 | Del(20)(q13.2q13.3) paterna · Monosomía paterna 20q13.2q13.3 |
| it | Sindrome da microdelezione 20q13 paterna | Del(20)(q13) paterna · Monosomia 20q13 paterna |
| nl | Paternale 20q13.2q13.3-microdeletiesyndroom | Paternale del(20)(q13.2q13.3) · Paternale monosomie 20q13.2q13.3 |
| pt | Síndrome de microdeleção paterna de 20q13 | Monossomia paterna de 20q13 |
| pl | Zespół mikrodelecji ojcowskiej 20q13.2q13.3 | Monosomia ojcowska 20q13.2q13.3 · Monosomia ojcowska 20q13.2-q13.3 · Ojcowska del(20)(q13.2q13.3) · Zespół mikrodelecji ojcowskiej 20q13.2-q13.3 |
| cs | Syndrom paternální mikrodelece 20q13.2q13.3 | Paternální del(20)(q13.2q13.3) · Paternální monozomie 20q13.2-q13.3 · Paternální monozomie 20q13.2.q13.3 · Paternální 20q13.2-q13.3 mikrodeleční syndrom |
| uk | Батьківський синдром мікроделеції 20q13.2q13.3 | Батько del(20)(q13.2q13.3) · Батьківська моносомія 20q13.2q13.3 |
| zh | 父源20q13.2q13.3微缺失综合征 | 父源20q13.2q13.3单体 |
| tr | Paternal 20q13.2q13.3 mikrodelesyon sendromu | Paternal del (20) (q13.2q13.3) · Paternal monozomi 20q13.2q13.3 |
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 | 0016842 | E | validated | |
| UMLS | C4510306 | 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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 15915160[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15915160[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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000414 | Bulbous nose | |
| HP:0000490 | Deeply set eye | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0100578 | Lipoatrophy | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0000322 | Short philtrum | |
| HP:0010781 | Skin dimple | |
| HP:0008070 | Sparse hair | |
| HP:0000963 | Thin skin | |
| HP:0000233 | Thin vermilion border | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001562 | Oligohydramnios | |
| HP:0002098 | Respiratory distress | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261304
- This record as JSON: /data/d/261304.json