Jeune syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: JATD
Asphyxiating thoracic dystrophy of the newborn
Jeune asphyxiating thoracic dystrophy
Number of Symptoms 56
OrphanetNr: 474
OMIM Id: 208500
611263
613091
613819
614376
ICD-10: Q77.2
UMLs:
MeSH: C537571
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Short rib-polydactyly syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare respiratory disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0000093) Proteinuria 169 / 7739
3
 (HPO:0000107) Renal cyst 126 / 7739
4
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
5
 (HPO:0012622) Chronic kidney disease 32 / 7739
6
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
7
 (HPO:0000546) Retinal degeneration 61 / 7739
8
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
9
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
10
 (HPO:0001161) Hand polydactyly 71 / 7739
11
 (HPO:0000888) Horizontal ribs 12 / 7739
12
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
13
 (HPO:0000766) Abnormality of the sternum Frequent [Orphanet] 31 / 7739
14
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
15
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
16
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
17
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
18
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
19
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
20
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
21
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
22
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
23
 (HPO:0006644) Thoracic dysplasia 12 / 7739
24
 (HPO:0009803) Short phalanx of finger 79 / 7739
25
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
26
 (HPO:0010582) Irregular epiphyses 19 / 7739
27
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
28
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
29
 (HPO:0001830) Postaxial foot polydactyly Occasional [Orphanet] 37 / 7739
30
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
31
 (HPO:0003038) Fibular hypoplasia 30 / 7739
32
 (HPO:0000773) Short ribs 70 / 7739
33
 (HPO:0008797) Early ossification of capital femoral epiphyses 2 / 7739
34
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
35
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
36
 (HPO:0001829) Foot polydactyly 41 / 7739
37
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
38
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
39
 (HPO:0001408) Bile duct proliferation 22 / 7739
40
 (HPO:0000952) Jaundice 105 / 7739
41
 (HPO:0006557) Polycystic liver disease 5 / 7739
42
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
43
 (HPO:0001737) Pancreatic cysts 15 / 7739
44
 (HPO:0100732) Pancreatic fibrosis 12 / 7739
45
 (HPO:0001395) Hepatic fibrosis 67 / 7739
46
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
47
 (HPO:0010444) Pulmonary insufficiency 11 / 7739
48
 (HPO:0002908) Conjugated hyperbilirubinemia 21 / 7739
49
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
50
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
51
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
52
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
53
 (HPO:0001522) Death in infancy Occasional [HPO:probinson] 275 / 7739
54
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
55
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
56
 (HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: