MCID: CHN027
MIFTS: 14

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 54
Maroteaux-Stanescu-Cousin Syndrome 60
Lethal Recessive Chondrodysplasia 60

Characteristics:

Orphanet epidemiological data:

60
lethal recessive chondrodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



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 generalized osteosclerosis and narrow chest

Related Diseases for 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 12.7

Symptoms & Phenotypes for Chondrodysplasia Lethal Recessive

Human phenotypes related to Chondrodysplasia Lethal Recessive:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized osteosclerosis 60 33 obligate (100%) Obligate (100%) HP:0005789
2 narrow chest 60 33 obligate (100%) Obligate (100%) HP:0000774
3 short long bone 60 33 obligate (100%) Obligate (100%) HP:0003026
4 accelerated skeletal maturation 60 33 obligate (100%) Obligate (100%) HP:0005616
5 flared elbow metaphyses 33 obligate (100%) HP:0003950
6 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
7 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
8 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
9 edema 60 33 frequent (33%) Frequent (79-30%) HP:0000969
10 respiratory distress 60 33 frequent (33%) Frequent (79-30%) HP:0002098
11 micromelia 60 33 frequent (33%) Frequent (79-30%) HP:0002983
12 limb undergrowth 60 Obligate (100%)
13 flared metaphyses (elbow) 60 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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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