MCID: CHN027
MIFTS: 13

Chondrodysplasia Lethal Recessive

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia Lethal Recessive

MalaCards integrated aliases for Chondrodysplasia Lethal Recessive:

Name: Chondrodysplasia Lethal Recessive 52
Maroteaux-Stanescu-Cousin Syndrome 58
Lethal Recessive Chondrodysplasia 58

Characteristics:

Orphanet epidemiological data:

58
lethal recessive chondrodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Chondrodysplasia Lethal Recessive

MalaCards based summary : Chondrodysplasia Lethal Recessive, also known as maroteaux-stanescu-cousin syndrome, is related to maroteaux stanescu cousin syndrome. Affiliated tissues include bone, and related phenotypes are narrow chest and accelerated skeletal maturation

Related Diseases for Chondrodysplasia Lethal Recessive

Diseases in the Lethal Chondrodysplasia family:

Chondrodysplasia Lethal Recessive

Diseases related to Chondrodysplasia Lethal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 maroteaux stanescu cousin syndrome 12.8

Symptoms & Phenotypes for Chondrodysplasia Lethal Recessive

Human phenotypes related to Chondrodysplasia Lethal Recessive:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow chest 58 31 obligate (100%) Obligate (100%) HP:0000774
2 accelerated skeletal maturation 58 31 obligate (100%) Obligate (100%) HP:0005616
3 generalized osteosclerosis 58 31 obligate (100%) Obligate (100%) HP:0005789
4 short long bone 58 31 obligate (100%) Obligate (100%) HP:0003026
5 flared elbow metaphyses 31 obligate (100%) HP:0003950
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
8 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
9 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
10 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
11 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
12 limb undergrowth 58 Obligate (100%)
13 flared metaphyses (elbow) 58 Obligate (100%)

Drugs & Therapeutics for Chondrodysplasia Lethal Recessive

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Lethal Recessive

Genetic Tests for Chondrodysplasia Lethal Recessive

Anatomical Context for Chondrodysplasia Lethal Recessive

MalaCards organs/tissues related to Chondrodysplasia Lethal Recessive:

40
Bone

Publications for Chondrodysplasia Lethal Recessive

Variations for Chondrodysplasia Lethal Recessive

Expression for Chondrodysplasia Lethal Recessive

Search GEO for disease gene expression data for Chondrodysplasia Lethal Recessive.

Pathways for Chondrodysplasia Lethal Recessive

GO Terms for Chondrodysplasia Lethal Recessive

Sources for Chondrodysplasia Lethal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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