Lung agenesis-heart defect-thumb anomalies syndrome
Synonyms: Mardini-Nyhan syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lung agenesis-heart defect-thumb anomalies syndrome | Mardini-Nyhan syndrome |
| fr | Syndrome d'agénésie pulmonaire-anomalie cardiaque-pouce triphalangé | Syndrome de Mardini-Nyhan |
| de | Lungenagenesie-Herzfehler-Daumenanomalien-Syndrom | Mardini-Nyhan-Syndrom |
| es | Síndrome de agenesia pulmonar-defecto cardíaco-anomalías del pulgar | Síndrome de Mardini-Nyhan |
| it | Sindrome agenesia polmonare-cardiopatia-anomalie del pollice | Sindrome di Mardini-Nyhan |
| nl | Longagenesie - hartdefect - duimanomalieën-syndroom | Syndroom van Mardini-Nyhan |
| pt | Síndrome de agenesia pulmonar-cardiopatia-anomalias dos polegares | |
| pl | Agnezja płuc - wada serca - anomalie kciuka | Zespół Mardini i Nyhan |
| cs | Syndrom zahrnující plicní agenezi, srdeční defekt a anomálie prstů | Mardiniho-Nyhanův syndrom · Mardini-Nyhanův syndrom |
| uk | Синдром агенезії легень - вади серця - аномалії великого пальця | Синдром Мардіні-Ніхана |
| zh | 肺发育缺陷-心脏缺陷-拇指畸形综合征 | Mardini-Nyhan综合征 |
| tr | Akciğer agenezi-kalp defekti-başparmak anomalileri sendromu | Mardini-Nyhan sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601612 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0011116 | E | validated | |
| UMLS | C4302918 | E | validated | |
| GARD | 3378 | 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 (4):
- ORPHA:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare genetic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:108995Syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic 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_25487726[PMID]_26513515[PMID] |
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 25487726[PMID]_26513515[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001631 | Atrial septal defect | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001522 | Death in infancy | |
| HP:0001643 | Patent ductus arteriosus | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0001250 | Seizure | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0009778 | Short thumb | |
| HP:0002414 | Spina bifida | |
| HP:0001772 | Talipes equinovalgus | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0002119 | Ventriculomegaly | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1120
- This record as JSON: /data/d/1120.json