ORPHA:65286
3q29 microdeletion syndrome
Synonyms: 3q subtelomere deletion syndrome · 3qter deletion · Del(3)(q29) · Monosomy 3q29 · Monosomy 3qter
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3q29 microdeletion syndrome | 3q subtelomere deletion syndrome · 3qter deletion · Del(3)(q29) · Monosomy 3q29 · Monosomy 3qter |
| fr | Syndrome de microdélétion 3q29 | Del(3)(q29) · Délétion 3q29 · Délétion 3qter · Monosomie 3q29 · Monosomie 3qter · Syndrome de délétion subtélomérique 3q |
| de | Mikrodeletionssyndrom 3q29 | Del(3)(q29) · Deletion 3qter · Monosomie 3q29 · Monosomie3qter |
| es | Síndrome de microdeleción 3q29 | Del(3)(q29) · Deleción 3qter · Monosomía 3q29 · Monosomía 3qter · Síndrome de deleción subtelomérica 3q |
| it | Sindrome da microdelezione 3q29 | Del(3)(q29) · Delezione 3qter · Monosomia 3q29 · Monosomia 3qter · Sindrome da delezione 3q subtelomerica |
| nl | 3q29-microdeletiesyndroom | 3q subtelomerische deletie-syndroom · 3qter-deletie · Del(3)(q29) · Monosomie 3q29 · Monosomie 3qter |
| pt | Síndrome de microdeleção 3q29 | |
| pl | Zespół mikrodelecji 3q29 | Del(3)(q29) · Delecja 3qter · Monosomia 3q29 · Monosomia 3qter · Zespół subtelomerowej delecji 3q |
| cs | Mikrodeleční syndrom 3q29 | Syndrom subtelomerické delece 3q · 3qter delece · Del(3)(q29) · Monozomie 3q29 · Monozomie 3qter |
| uk | Синдром мікроделеції 3q29 | Синдром делеції субтеломера 3q · Видалення 3qter · Del(3)(q29) · Моносомія 3q29 · Моносомія 3qter |
| zh | 3q29微缺失综合征 | 3q亚端粒微小缺失综合征 |
| tr | 3q29 mikrodelesyon sendromu | Del (3) (q29) · Monozomi 3q29 · 3qter delesyon · Monozomi 3qter · 3q subtelomer delesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609425 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.30 | NTBT | index | validated |
| MONDO | 0012269 | E | validated | |
| MeSH | C567184 | E | validated | |
| UMLS | C2674949 | E | validated | |
| GARD | 11974 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262019Partial deletion of the long arm of chromosome 3 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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.
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HPO phenotypes
44 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0000518 | Cataract | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000678 | Dental crowding | |
| HP:0000716 | Depression | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000218 | High palate | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001611 | Hypernasal speech | |
| HP:0000047 | Hypospadias | |
| HP:0001382 | Joint hypermobility | |
| HP:0000276 | Long face | |
| HP:0000256 | Macrocephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0000275 | Narrow face | |
| HP:0000202 | Orofacial cleft | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000709 | Psychosis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0003196 | Short nose | |
| HP:0008416 | Six lumbar vertebrae | |
| HP:0001682 | Subvalvular aortic stenosis | |
| HP:0001182 | Tapered finger | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15918153[PMID]_20830797[PMID]_19460468[PMID]_19298871[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65286
- This record as JSON: /data/d/65286.json