Omodysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 2733
OMIM Id: 164745
258315
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000047) Hypospadias 250 / 7739
4
 (HPO:0002007) Frontal bossing 366 / 7739
5
 (HPO:0000456) Bifid nasal tip 11 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
8
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
9
 (HPO:0008905) Rhizomelia Frequent [Orphanet] 85 / 7739
10
 (HPO:0005060) Limited elbow flexion/extension 3 / 7739
11
 (HPO:0004991) Rhizomelic arm shortening 2 / 7739
12
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
13
 (HPO:0005792) Short humerus 34 / 7739
14
 (HPO:0010034) Short 1st metacarpal 19 / 7739
15
 (HPO:0003083) Dislocated radial head 35 / 7739
16
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
17
 (HPO:0005025) Hypoplastic distal humeri 3 / 7739
18
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: