Short-rib thoracic dysplasia 5 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRTD5
ATD5
Number of Symptoms 39
OrphanetNr:
OMIM Id: 614376
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:0004743) Chronic tubulointerstitial nephritis 2 / 7739
2
 (HPO:0000089) Renal hypoplasia 78 / 7739
3
 (HPO:0000093) Proteinuria 169 / 7739
4
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
5
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
6
 (HPO:0000293) Full cheeks 85 / 7739
7
 (HPO:0000518) Cataract 454 / 7739
8
 (HPO:0000545) Myopia 286 / 7739
9
 (HPO:0001103) Abnormality of the macula 7 / 7739
10
 (HPO:0001763) Pes planus 176 / 7739
11
 (HPO:0001773) Short foot 86 / 7739
12
 (HPO:0001822) Hallux valgus 70 / 7739
13
 (HPO:0001761) Pes cavus 225 / 7739
14
 (HPO:0008905) Rhizomelia 85 / 7739
15
 (HPO:0001838) Rocker bottom foot 85 / 7739
16
 (HPO:0001765) Hammertoe 63 / 7739
17
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
18
 (HPO:0006644) Thoracic dysplasia 12 / 7739
19
 (HPO:0000774) Narrow chest 167 / 7739
20
 (HPO:0003016) Metaphyseal widening 41 / 7739
21
 (HPO:0100866) Short iliac bones 2 / 7739
22
 (HPO:0002240) Hepatomegaly 467 / 7739
23
 (HPO:0000023) Inguinal hernia 181 / 7739
24
 (HPO:0004322) Short stature 1232 / 7739
25
 (HPO:0003259) Elevated serum creatinine 31 / 7739
26
 (MedDRA:10072883) Brachydactyly 153 / 7739
27
 (OMIM) Short and broad diaphyses 1 / 7739
28
 (OMIM) Yellow discoloration 2 / 7739
29
 (OMIM) Small dysplastic epiphysis of distal radius 1 / 7739
30
 (OMIM) Attenuated arteries 1 / 7739
31
 (OMIM) Diffuse sclerotic glomerulonephritis 1 / 7739
32
 (OMIM) Small dysplastic epiphysis of distal tibia 1 / 7739
33
 (OMIM) Spur-like protrusions at acetabular roof 1 / 7739
34
 (OMIM) Abnormal ribs, with horizontal orientation dorsally and diagonal orientation anteriorly 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Restrictive reduced lung volume 1 / 7739
37
 (OMIM) Wide intrahepatic bile ducts 1 / 7739
38
 (OMIM) Wide bridge 1 / 7739
39
 (OMIM) Rhizomelic shortening 12 / 7739

Associated genes:

WDR19;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Vries et al. (2010) described 13 patients with Jeune syndrome, including a 22-year-old Dutch woman who was born to healthy, unrelated parents and had 1 healthy younger sib. At 1 year of age, she was evaluated for ...
Molecular genetics OMIM Bredrup et al. (2011) analyzed the candidate gene WDR19 (608151) in 14 patients with Jeune syndrome. In a 22-year-old Dutch woman originally reported by de Vries et al. (2010), they identified homozygosity for a missense mutation in the ...