MCID: THR033
MIFTS: 17

Thoracomelic Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Thoracomelic Dysplasia

MalaCards integrated aliases for Thoracomelic Dysplasia:

Name: Thoracomelic Dysplasia 57 58 70
Thoracolimb Dysplasia, Rivera Type 58
Thoraco Limb Dysplasia Rivera Type 70
Rivera-Perez-Salas Syndrome 58
'thoraco-Limb' Dysplasia 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
thoracomelic dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 273740
ICD10 via Orphanet 33 Q77.2
UMLS via Orphanet 71 C1848863 C2931227
Orphanet 58 ORPHA1803
MedGen 41 C1848863
UMLS 70 C1848863 C2931227

Summaries for Thoracomelic Dysplasia

MalaCards based summary : Thoracomelic Dysplasia, also known as thoracolimb dysplasia, rivera type, is related to dwarfism. Affiliated tissues include bone, and related phenotypes are hyperlordosis and abnormality of the metaphysis

More information from OMIM: 273740

Related Diseases for Thoracomelic Dysplasia

Diseases related to Thoracomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.0

Symptoms & Phenotypes for Thoracomelic Dysplasia

Human phenotypes related to Thoracomelic Dysplasia:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
2 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
3 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
4 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
5 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
6 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
7 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
8 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
9 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
10 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
11 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
12 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
13 limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009826
14 abnormality of fibula morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002991
15 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
16 short ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000773
17 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
18 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Thorax:
bell-shaped thorax
short ribs

Misc:
improvement with age

Limbs:
dislocatable radial heads
elongated distal fibulas

Growth:
short-limbed dwarfism

Skel:
pelvic hypoplasia
thoracomelic dysplasia

Clinical features from OMIM®:

273740 (Updated 05-Apr-2021)

Drugs & Therapeutics for Thoracomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Thoracomelic Dysplasia

Genetic Tests for Thoracomelic Dysplasia

Anatomical Context for Thoracomelic Dysplasia

MalaCards organs/tissues related to Thoracomelic Dysplasia:

40
Bone

Publications for Thoracomelic Dysplasia

Articles related to Thoracomelic Dysplasia:

# Title Authors PMID Year
1
A probably distinct autosomal recessive thoraco-limb dysplasia. 57
3184141 1988
2
[Cephalo-thoracomelic dysplasia]. 61
1055590 1975

Variations for Thoracomelic Dysplasia

Expression for Thoracomelic Dysplasia

Search GEO for disease gene expression data for Thoracomelic Dysplasia.

Pathways for Thoracomelic Dysplasia

GO Terms for Thoracomelic Dysplasia

Sources for Thoracomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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