Thoracomelic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: THORACO-LIMB&#39
DYSPLASIA
&#39
Rivera-Perez-Salas syndrome
Number of Symptoms 25
OrphanetNr: 1803
OMIM Id: 273740
ICD-10: Q77.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Short rib dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
2
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
3
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
4
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
5
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
6
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
7
 (HPO:0000773) Short ribs 70 / 7739
8
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
9
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
10
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
11
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
12
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
13
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
14
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
15
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
16
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
17
 (HPO:0001591) Bell-shaped thorax Very frequent [Orphanet] 35 / 7739
18
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
19
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
21
 (OMIM) Elongated distal fibulas 1 / 7739
22
 (OMIM) Thoracomelic dysplasia 1 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Pelvic hypoplasia 2 / 7739
25
 (OMIM) Dislocatable radial heads 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: