4q25 proximal deletion syndrome
Synonyms: Proximal del(4)(q25) · Proximal monosomy 4q25
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 4q25 proximal deletion syndrome | Proximal del(4)(q25) · Proximal monosomy 4q25 |
| fr | Syndrome de délétion 4q25 proximale | Del(4)(q25) proximale · Monosomie 4q25 proximale |
| de | Proximale Deletion 4q25-Syndrom | Del(4)(q25), proximale · Monosomie 4q25, proximale |
| es | Síndrome de deleción proximal 4q25 | Del(4)(q25) proximal · Monosomía proximal 4q25 |
| it | Sindrome da delezione prossimale 4q25 | |
| nl | Proximale 4q25-deletiesyndroom | Proximale del(4)(q25) · Proximale monosomie 4q25 |
| pt | Síndrome de deleção proximal 4q25 | |
| pl | Zespół delecji proksymalnego regionu 4q25 | del(4)(q25) proksymalna · Monosomia proksymalna 4q25 |
| cs | Syndrom proximální delece 4q25 | Proximal del(4)(q25) · Proximal monosomy 4q25 · Proximální del(4)(q25) · Proximální monozomie 4q25 |
| uk | Синдром проксимальної делеції 4q25 | Proximal del(4)(q25) · Проксимальна моносомія 4q25 |
| zh | 染色体4q25近端缺失综合征 | 染色体4q2近端缺失 |
| tr | 4q25 proksimal delesyon sendromu | Proksimal del (4) (q25) · Proksimal monozomi 4q25 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0044717 | E | validated | |
| UMLS | C5680087 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262029Partial deletion of the long arm of chromosome 4 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27587989[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27587989[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/502437
- This record as JSON: /data/d/502437.json