MCID: CHN027
MIFTS: 15

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 53
Maroteaux-Stanescu-Cousin Syndrome 59
Lethal Recessive Chondrodysplasia 59

Characteristics:

Orphanet epidemiological data:

59
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 macroglossia and micrognathia

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 12.6

Symptoms & Phenotypes for Chondrodysplasia Lethal Recessive

Human phenotypes related to Chondrodysplasia Lethal Recessive:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
2 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
3 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
4 generalized osteosclerosis 59 32 obligate (100%) Obligate (100%) HP:0005789
5 narrow chest 59 32 obligate (100%) Obligate (100%) HP:0000774
6 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
7 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
8 short long bone 59 32 obligate (100%) Obligate (100%) HP:0003026
9 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
10 accelerated skeletal maturation 59 32 obligate (100%) Obligate (100%) HP:0005616
11 limb undergrowth 59 Obligate (100%)
12 flared metaphyses (elbow) 59 Obligate (100%)
13 flared elbow metaphyses 32 obligate (100%) HP:0003950

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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