Rudiger syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr: 3118
OMIM Id: 268650
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: autosomal recessive
Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal/infancy
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000813) Bicornuate uterus 22 / 7739
2
 (HPO:0000138) Ovarian cyst 25 / 7739
3
 (HPO:0000054) Micropenis 257 / 7739
4
 (HPO:0008714) Ureterovesical stenosis 10 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0002007) Frontal bossing 366 / 7739
7
 (HPO:0011220) Prominent forehead 137 / 7739
8
 (HPO:0000280) Coarse facial features 189 / 7739
9
 (HPO:0001042) High axial triradius 4 / 7739
10
 (HPO:0011927) Short digit 17 / 7739
11
 (HPO:0000954) Single transverse palmar crease 162 / 7739
12
 (HPO:0001371) Flexion contracture 220 / 7739
13
 (HPO:0000023) Inguinal hernia 181 / 7739
14
 (HPO:0001804) Hypoplastic fingernail 62 / 7739
15
 (HPO:0001609) Hoarse voice 34 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Low-pitched, hoarse voice 1 / 7739
18
 (OMIM) Stubby nose 1 / 7739
19
 (HPO:0001522) Death in infancy 275 / 7739
20
 (OMIM) Simple arches on all digits 1 / 7739
21
 (OMIM) Protuberant upper lip 1 / 7739
22
 (OMIM) Palmar flexion contractures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: