Distal deletion 3p syndrome
Synonyms: 3p deletion syndrome · 3p- syndrome · Distal monosomy 3p · Monosomy 3pter · Telomeric monosomy 3p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 3p syndrome | 3p deletion syndrome · 3p- syndrome · Distal monosomy 3p · Monosomy 3pter · Telomeric monosomy 3p |
| fr | Syndrome de délétion distale 3p | Délétion 3pter · Délétion télomérique 3p · Monosomie 3pter · Monosomie distale 3p · Syndrome 3p- |
| de | Distale Deletion 3p | 3p-minus-Syndrom · Distale Monosomie 3p · Monosomie 3pter · Telomere Monosomie 3p |
| es | Síndrome de deleción terminal 3p | Monosomía 3pter · Monosomía terminal 3p · Síndrome 3p- · Síndrome de deleción 3p- |
| it | Sindrome delezione 3p distale | Monosomia 3p distale · Monosomia 3p telomerica · Monosomia 3pter · Sindrome 3p- · Sindrome delezione 3p |
| nl | Distale deletie 3p-syndroom | Telomerische monosomie 3p · 3p-deletiesyndroom · 3p-syndroom · Distale monosomie 3p · Monosomie 3pter |
| pt | Deleção distal 3p | Monossomia 3pter · Monossomia distal 3p · Monossomia telomérica 3p |
| pl | Zespół delecji dystalnej 3p | 3p- syndrome · Dystalna delecja 3p · Monosomia 3pter · Telomerowa monosomia 3p |
| cs | Distální monozomie 3p | 3p- syndrom · Distální 3p delece · Monozomie 3pter · Telomerická monozomie 3p |
| uk | Дистальна делеція 3p | Синдром делеції 3p · 3p-синдром · Дистальна моносомія 3p · Моносомія 3pter · Теломерична моносомія 3p |
| zh | 3号染色体短臂远端单体 | 3号染色体短臂末端着丝粒单体 |
| tr | Distal monozomi 3p | 3p- sendromu · Monozomi 3pter · Distal 3p delesyonu · Telomerik monozomi 3p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613792 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0013424 | E | validated | |
| UMLS | C4706503 | E | validated | |
| GARD | 3750 | 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:293642Blepharophimosis-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:261875Partial deletion of the short arm of chromosome 3 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRPF1 | Role in the phenotype of | Assessed | HGNC:14255 | ENSG00000156983 | 602410 | 3p25.3 | bromodomain and PHD finger containing 1 | 28881385[PMID] |
| SETD5 | Role in the phenotype of | Assessed | HGNC:25566 | ENSG00000168137 | 615743 | 3p25.3 | SET domain containing 5 | 25138099[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 34 cases | Worldwide | Case(s) | Validated | ISBN-10:0781730635[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ISBN-10:0781730635[OTHER] |
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
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0006695 | Atrioventricular canal defect | |
| HP:0000248 | Brachycephaly | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| Occasional (29-5%) | ||
| HP:0007670 | Abnormal vestibulo-ocular reflex | |
| HP:0000463 | Anteverted nares | |
| HP:0000581 | Blepharophimosis | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000023 | Inguinal hernia | |
| HP:0004467 | Preauricular pit | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0001257 | Spasticity | |
| HP:0000233 | Thin vermilion border | |
| HP:0000325 | Triangular face | |
| HP:0001537 | Umbilical hernia | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1620
- This record as JSON: /data/d/1620.json