MCID: THR033
MIFTS: 18

Thoracomelic Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Thoracomelic Dysplasia

MalaCards integrated aliases for Thoracomelic Dysplasia:

Name: Thoracomelic Dysplasia 57 58 71
Thoracolimb Dysplasia, Rivera Type 58
Thoraco Limb Dysplasia Rivera Type 71
Rivera-Perez-Salas Syndrome 58
'thoraco-Limb' Dysplasia 57

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy 58

Classifications:

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


External Ids:

OMIM® 57 273740
ICD10 via Orphanet 32 Q77.2
UMLS via Orphanet 72 C1848863 C2931227
Orphanet 58 ORPHA1803
MedGen 40 C1848863
UMLS 71 C1848863 C2931227

Summaries for Thoracomelic Dysplasia

Orphanet: 58 Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.

MalaCards based summary: Thoracomelic Dysplasia, also known as thoracolimb dysplasia, rivera type, is related to osteochondrodysplasia. Affiliated tissues include bone, and related phenotypes are hyperlordosis and genu valgum

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 osteochondrodysplasia 10.0

Symptoms & Phenotypes for Thoracomelic Dysplasia

Human phenotypes related to Thoracomelic Dysplasia:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003307
2 genu valgum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002857
3 diaphyseal thickening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005019
4 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012368
5 low posterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002162
6 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
7 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000774
8 round face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000311
9 elbow dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003042
10 disproportionate short-limb short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008873
11 limb undergrowth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009826
12 abnormality of fibula morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002991
13 bell-shaped thorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001591
14 short ribs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000773
15 abnormal pelvic girdle bone morphology 30 Hallmark (90%) HP:0002644
16 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
17 gait disturbance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001288
18 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
19 abnormality of the metaphysis 58 Very frequent (99-80%)
20 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

Drugs & Therapeutics for Thoracomelic Dysplasia

Search Clinical Trials, NIH Clinical Center for Thoracomelic Dysplasia

Genetic Tests for Thoracomelic Dysplasia

Anatomical Context for Thoracomelic Dysplasia

Organs/tissues related to Thoracomelic Dysplasia:

MalaCards : Bone

Publications for Thoracomelic Dysplasia

Articles related to Thoracomelic Dysplasia:

# Title Authors PMID Year
1
A probably distinct autosomal recessive thoraco-limb dysplasia. 62 57
3184141 1988
2
[Cephalo-thoracomelic dysplasia]. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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