Distal deletion 4q syndrome
Synonyms: Distal monosomy 4q · Monosomy 4qter · Telomeric deletion 4q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 4q syndrome | Distal monosomy 4q · Monosomy 4qter · Telomeric deletion 4q |
| fr | Syndrome de délétion distale 4q | Délétion 4qter · Délétion télomérique 4q · Monosomie 4qter · Monosomie distale 4q · Monosomie télomérique 4q |
| de | Distale Deletion 4q | Deletion 4q, distale · Distale Monosomie 4q · Monosomie 4qter · Telomere Deletion 4q |
| es | Síndrome de deleción terminal 4q | Monosomía 4qter · Monosomía terminal 4q |
| it | Sindrome delezione 4q distale | Monosomia 4q distale · Delezione 4q telomerica · Monosomia 4qter |
| nl | Distale deletie 4q-syndroom | Distale monosomie 4q · Monosomie 4qter · Telomerische deletie 4q |
| pt | Distal deletion 4q | Deleção telomérica 4q · Monossomia 4qter · Monossomia distal 4q |
| pl | Zespół delecji dystalnej 4q | Delecja dystalna 4q · Delecja telomerowa 4q · Monosomia 4qter |
| cs | Distální monozomie 4q | Distální delece 4q · Monozomie 4qter · Telomerická delece 4q |
| uk | Дистальна делеція 4q | Дистальна моносомія 4q · Моносомія 4qter · Делеція теломерної ділянки 4q |
| zh | 4号染色体长臂远端单体 | 4号染色体长臂端粒缺失 |
| tr | Distal monozomi 4q | Monozomi 4qter · Distal delesyon 4q · Telomerik delesyon 4q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.40 | NTBT | attributed | validated |
| MONDO | 0019895 | E | validated | |
| UMLS | C5190514 | 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: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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96145
- This record as JSON: /data/d/96145.json