ORPHA:474
Jeune syndrome
Synonyms: Asphyxiating thoracic dystrophy of the newborn · JATD · Jeune asphyxiating thoracic dystrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Jeune syndrome | Asphyxiating thoracic dystrophy of the newborn · JATD · Jeune asphyxiating thoracic dystrophy |
| fr | Syndrome de Jeune | Dystrophie thoracique asphyxiante de Jeune · Dystrophie thoracique asphyxiante du nouveau-né · JATD |
| de | Jeune-Syndrom | Asphyxiierende Thoraxdystrophie des Neugeborenen · JATD |
| es | Síndrome de Jeune | Distrofia torácica asfixiante de Jeune · Distrofia torácica asfixiante del recién nacido · JATD |
| it | Sindrome di Jeune | Distrofia toracica asfissiante del neonato · Distrofia toracica asfissiante di Jeune · JATD |
| nl | Syndroom van Jeune | Asfyxiërende thoracale dystrofie van Jeune · Asfyxiërende thoracale dystrofie van de nieuwgeborene · JATD |
| pt | Síndrome Jeune | Distrofia torácica asfixiante do recém-nascido |
| pl | Zespół Jeune'a | Dysplazja zaciskająca klatki piersiowej Jeune'a · Dysplazja zaciskająca klatki piersiowej noworodków · JATD |
| cs | Jeuneův syndrom | Asfyktická torakální dystrofie · JATD · Jeuneho asfyktické dystrofie hrudníku |
| uk | Синдром Жена | Асфіктична торакальна дистрофія новонароджених · JATD · Асфіктична торакальна дистрофія Жене |
| zh | 热纳综合征 | 新生儿窒息性胸腔营养不良 |
| tr | Jeune sendromu | JATD · Jeune asfikse edici torasik distrofi · Yenidoğanın asfikse edici torasik distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208500 | BTNT | validated | |
| OMIM | 611263 | BTNT | validated | |
| OMIM | 613091 | BTNT | validated | |
| OMIM | 613819 | BTNT | validated | |
| OMIM | 614376 | BTNT | validated | |
| OMIM | 615630 | BTNT | validated | |
| OMIM | 615633 | BTNT | validated | |
| OMIM | 616300 | BTNT | validated | |
| OMIM | 617088 | BTNT | validated | |
| OMIM | 619479 | BTNT | validated | |
| ICD-10 | Q77.2 | NTBT | inclusion | validated |
| ICD-11 | LD24.B1 | E | specific | validated |
| MONDO | 0018770 | E | validated | |
| MeSH | C537571 | E | validated | |
| UMLS | C0265275 | E | validated | |
| GARD | 3049 | E | validated | |
| MedDRA | 10057621 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases - ORPHA:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases
No children.
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Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEP120 | Disease-causing germline mutation(s) in | Assessed | HGNC:26690 | ENSG00000168944 | 613446 | 5q23.2 | centrosomal protein 120 | 25361962[PMID] |
| DYNC2H1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2962 | ENSG00000187240 | 603297 | 11q22.3 | dynein cytoplasmic 2 heavy chain 1 | 23456818[PMID]_23339108[PMID] |
| DYNC2I1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21862 | ENSG00000126870 | 615462 | 7q36.3 | dynein 2 intermediate chain 1 | 23910462[PMID] |
| DYNC2I2 | Disease-causing germline mutation(s) in | Assessed | HGNC:28296 | ENSG00000119333 | 613363 | 9q34.11 | dynein 2 intermediate chain 2 | 24183451[PMID] |
| DYNC2LI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24595 | ENSG00000138036 | 617083 | 2p21 | dynein cytoplasmic 2 light intermediate chain 1 | 26077881[PMID] |
| IFT140 | Disease-causing germline mutation(s) in | Assessed | HGNC:29077 | ENSG00000187535 | 614620 | 16p13.3 | intraflagellar transport 140 | 22503633[PMID]_23418020[PMID]_24009529[PMID] |
| IFT172 | Disease-causing germline mutation(s) in | Assessed | HGNC:30391 | ENSG00000138002 | 607386 | 2p23.3 | intraflagellar transport 172 | 24140113[PMID] |
| IFT80 | Disease-causing germline mutation(s) in | Assessed | HGNC:29262 | ENSG00000068885 | 611177 | 3q25.33 | intraflagellar transport 80 | 17468754[PMID] |
| KIAA0753 | Disease-causing germline mutation(s) in | Assessed | HGNC:29110 | ENSG00000198920 | 617112 | 17p13.1 | KIAA0753 | 29138412[PMID] |
| TTC21B | Disease-causing germline mutation(s) in | Assessed | HGNC:25660 | ENSG00000123607 | 612014 | 2q24.3 | tetratricopeptide repeat domain 21B | 21258341[PMID]_22791528[PMID] |
| WDR19 | Disease-causing germline mutation(s) in | Assessed | HGNC:18340 | ENSG00000157796 | 608151 | 4p14 | WD repeat domain 19 | 22019273[PMID]_22791528[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.89 / 100 000 | Australia | Value and class | Not yet validated | 931421[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
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HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0010306 | Short thorax | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0001156 | Brachydactyly | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001773 | Short foot | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001392 | Abnormality of the liver | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000090 | Nephronophthisis | |
| HP:0000112 | Nephropathy | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000083 | Renal insufficiency | |
| HP:0004322 | Short stature | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/474
- This record as JSON: /data/d/474.json