16q24.1 microdeletion syndrome
Synonyms: Del(16)(q24.1) · Monosomy 16q24.1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16q24.1 microdeletion syndrome | Del(16)(q24.1) · Monosomy 16q24.1 |
| fr | Syndrome de microdélétion 16q24.1 | Del(16)(q24.1) · Monosomie 16q24.1 |
| de | Mikrodeletionssyndrom 16q24.1 | |
| es | Síndrome de microdeleción 16q24.1 | Del(16)(q24.1) · Monosomía 16q24.1 |
| it | Sindrome da microdelezione 16q24.1 | Del(16)(q24.1) · Monosomia 16q24.1 |
| nl | 16q24.1-microdeletiesyndroom | Del(16)(q24.1) · Monosomie 16q24.1 |
| pt | Síndrome de microdeleção 16q24.1 | |
| pl | Zespół mikrodelecji 16q24.1 | Del(16)(q24.1) · Monosomia 16q24.1 |
| cs | Mikrodeleční syndrom 16q24.1 | Del(16)(q24.1) · Monozomie 16q24.1 |
| uk | Синдром мікроделеції 16q24.1 | Del(16)(q24.1) · Моносомія 16q24.1 |
| zh | 16q24.1微缺失综合征 | 16q24.1单体 |
| tr | 16q24.1 mikrodelesyon sendromu | Del(16)(q24.1) · Monozomi 16q24.1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018127 | E | validated | |
| UMLS | C4749464 | 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:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:262128Partial deletion of the long arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:264683Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 42 cases | Worldwide | Case(s) | Validated | 27071622[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27071622[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/352629
- This record as JSON: /data/d/352629.json