Short-rib thoracic dysplasia 1 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRTD1
ATD1
Jeune syndrome
Thoracic-pelvic-phalangeal dystrophy
Number of Symptoms 38
OrphanetNr:
OMIM Id: 208500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000093) Proteinuria 169 / 7739
2
(HPO:0000800) Cystic renal dysplasia 31 / 7739
3
(HPO:0000083) Renal insufficiency 232 / 7739
4
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
5
(HPO:0000546) Retinal degeneration 61 / 7739
6
(HPO:0009803) Short phalanx of finger 79 / 7739
7
(HPO:0010582) Irregular epiphyses 19 / 7739
8
(HPO:0008797) Early ossification of capital femoral epiphyses 2 / 7739
9
(HPO:0010442) Polydactyly 69 / 7739
10
(HPO:0010579) Cone-shaped epiphysis 54 / 7739
11
(HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
12
(HPO:0003951) Distal humeral metaphyseal irregularity 1 / 7739
13
(HPO:0002866) Hypoplastic iliac wing 34 / 7739
14
(HPO:0003026) Short long bone 51 / 7739
15
(HPO:0008839) Hypoplastic pelvis 18 / 7739
16
(HPO:0003025) Metaphyseal irregularity 42 / 7739
17
(HPO:0001737) Pancreatic cysts 15 / 7739
18
(HPO:0001408) Bile duct proliferation 22 / 7739
19
(HPO:0100732) Pancreatic fibrosis 12 / 7739
20
(HPO:0006557) Polycystic liver disease 5 / 7739
21
(HPO:0000952) Jaundice 105 / 7739
22
(HPO:0001395) Hepatic fibrosis 67 / 7739
23
(HPO:0004322) Short stature 1232 / 7739
24
(HPO:0010444) Pulmonary insufficiency 11 / 7739
25
(HPO:0002908) Conjugated hyperbilirubinemia 21 / 7739
26
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
27
(HPO:0002205) Recurrent respiratory infections 254 / 7739
28
(OMIM) Lacunar skull 1 / 7739
29
(OMIM) Long, narrow thorax 1 / 7739
30
(OMIM) Ulnae, relatively short (childhood) 1 / 7739
31
(OMIM) Handlebar clavicles 3 / 7739
32
(OMIM) Sciatic notch spur 1 / 7739
33
(OMIM) Fibulae, relatively short (childhood) 1 / 7739
34
(OMIM) Short, horizontal ribs 4 / 7739
35
(MedDRA:10072883) Brachydactyly 153 / 7739
36
(OMIM) Chronic nephritis 2 / 7739
37
(OMIM) Trident acetabular roofs 2 / 7739
38
(OMIM) Bulbous, irregular rib ends 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy due to respiratory insufficiency. ...
Clinical Description OMIM Maroteaux and Savart (1964) described asphyxiating thoracic dystrophy, and noted that the skeletal changes in the rib cage, pelvis, and limbs were similar to those observed in Ellis-van Creveld syndrome (EVC; 225500). Pirnar and Neuhauser (1966) reported 3 ...