Primary pulmonary hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary pulmonary hypoplasia | |
| fr | Hypoplasie pulmonaire primitive | |
| de | Pulmonale Hypoplasie, primäre | |
| es | Hipoplasia pulmonar primaria | |
| it | Ipoplasia polmonare primitiva | |
| nl | Primaire pulmonale hypoplasie | |
| pt | Hipoplasia pulmonar primária | |
| pl | Rodzinna pierwotna hipoplazja płuc | |
| cs | Primární familiární hypoplázie plic | |
| uk | Первинна гіпоплазія легень | |
| zh | 原发性肺发育不良 | |
| tr | Primer pulmoner hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265430 | E | validated | |
| ICD-10 | Q33.6 | NTBT | attributed | validated |
| ICD-11 | LA75.2 | E | specific | validated |
| MONDO | 0009936 | E | validated | |
| MONDO | 9936 | E | validated | |
| UMLS | C0456891 | 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:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical thoracic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2258OBSOLETE: Congenital unilateral pulmonary hypoplasia referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 27374786[PMID]_30828993[PMID]_30413314[PMID]_30639323[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27374786[PMID]_30828993[PMID]_30413314[PMID]_30639323[PMID]_ORPHANET |
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
26 annotations · validated 2019-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002089 | Pulmonary hypoplasia | |
| Frequent (79-30%) | ||
| HP:0030829 | Abnormal breath sound | |
| HP:0002104 | Apnea | |
| HP:0000961 | Cyanosis | |
| HP:0012418 | Hypoxemia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0002789 | Tachypnea | |
| Occasional (29-5%) | ||
| HP:0040045 | Abnormal hemidiaphragm morphology | |
| HP:0002778 | Abnormal trachea morphology | |
| HP:0000175 | Cleft palate | |
| HP:0001651 | Dextrocardia | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001684 | Secundum atrial septal defect | |
| Very rare (<4-1%) | ||
| HP:0030966 | Abnormal pulmonary artery morphology | |
| HP:0002099 | Asthma | |
| HP:0002107 | Pneumothorax | |
| HP:0000071 | Ureteral stenosis | |
| Excluded (0%) | ||
| HP:0032094 | Increased circulating surfactant protein level | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30639323[PMID]_30413314[PMID]_30828993[PMID]_27374786[PMID]_608831[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2257
- This record as JSON: /data/d/2257.json