Monosomy 13q34 syndrome
Synonyms: Del(13)(q34) · Distal deletion 13q34 · Subtelomeric deletion 13q34
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 13q34 syndrome | Del(13)(q34) · Distal deletion 13q34 · Subtelomeric deletion 13q34 |
| fr | Syndrome de monosomie 13q34 | Délétion subtélomérique 13q34 · Del(13)(q34) · Délétion distale 13q34 |
| de | Monosomie 13q34 | Del(13)(q34) · Deletion 13q34, distale · Subtelomere Deletion 13q34 |
| es | Síndrome de monosomía 13q34 | Del(13)(q34) · Deleción subtelomérica 13q34 · Deleción terminal 13q34 |
| it | Sindrome monosomia 13q34 | Del(13)(q34) · Delezione 13q34 distale · Delezione 13q34 subtelomerica |
| nl | Monosomie 13q34-syndroom | Del(13)(q34) · Distale deletie 13q34 · Subtelomerische deletie 13q34 |
| pt | Monossomia 13q34 | |
| pl | Zespół delecji 13q34 | Del(13)(q34) · Delecja dystalna 13q34 · Delecja subtelomerowa 13q34 |
| cs | Monozomie 13q34 | Del(13)(q34) · Distální delece 13q34 · Subtelometická delece 13q34 |
| uk | Моносомія 13q34 | Del(13)(q34) · Дистальна делеція 13q34 · Субтеломерна делеція 13q34 |
| zh | 13q34单体 | 13q34端粒缺失 |
| tr | Monozomi 13q34 | Del (13) (q34) · Distal delesyon 13q34 · Subtelomerik delesyon 13q34 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619148 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.D | NTBT | index | validated |
| MONDO | 0019902 | E | validated | |
| UMLS | C4707797 | 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:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:262101Partial deletion of the long arm of chromosome 13 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | 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 2017-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000316 | Hypertelorism | |
| HP:0000252 | Microcephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000448 | Prominent nose | |
| Occasional (29-5%) | ||
| HP:0000363 | Abnormality of earlobe | |
| HP:0011565 | Common atrium | |
| HP:0000286 | Epicanthus | |
| HP:0000421 | Epistaxis | |
| HP:0010945 | Fetal pyelectasis | |
| HP:0002573 | Hematochezia | |
| HP:0001397 | Hepatic steatosis | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0000855 | Insulin resistance | |
| HP:0100608 | Metrorrhagia | |
| HP:0000347 | Micrognathia | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0001642 | Pulmonic stenosis | |
| Very rare (<4-1%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0003072 | Hypercalcemia | |
| HP:0032152 | Keratosis pilaris | |
| HP:0040188 | Osteochondrosis | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 27067448[PMID]_26012727[PMID]_26645620[PMID]_22847911[PMID]_21595000[PMID]_21199766[PMID]_19610112[PMID]_18162117[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96168
- This record as JSON: /data/d/96168.json