Distal deletion 14q syndrome
Synonyms: Distal monosomy 14q · Telomeric deletion 14q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 14q syndrome | Distal monosomy 14q · Telomeric deletion 14q |
| fr | Syndrome de délétion distale 14q | Délétion 14qter · Délétion télomérique 14q · Monosomie 14qter · Monosomie distale 14q · Monosomie télomérique 14q |
| de | Distale Deletion 14q | Deletion 14q, distale · Distale Monosomie 14q · Telomere Deletion 14q |
| es | Síndrome de deleción terminal 14q | Monosomía terminal 14q |
| it | Sindrome delezione 14q distale | Monosomia 14q distale · Delezione 14q telomerica |
| nl | Distale deletie 14q-syndroom | Distale monosomie 14q · Telomerische deletie 14q |
| pt | Deleção distal 14q | Deleção telomérica 14q · Monossomia 14qter · Monossomia distal 14q |
| pl | Zespół delecji dystalnej 14q | Delecja dystalna 14q · Delecja telomerowa 14q |
| cs | Distální monozomie 14q | Distální delece 14q · Telomerická delece 14q |
| uk | Дистальна делеція 14q | Дистальна моносомія 14q · Делеція теломерної ділянки 14q |
| zh | 14号染色体长臂远端单体 | 14号染色体长臂端粒缺失 |
| tr | Distal monozomi 14q | Distal delesyon 14q · Telomerik delesyon 14q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0019898 | E | validated | |
| UMLS | C4749276 | 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:262110Partial deletion of the long arm of chromosome 14 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/96150
- This record as JSON: /data/d/96150.json