MCID: ACR027
MIFTS: 13

Acrodysplasia Scoliosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrodysplasia Scoliosis

MalaCards integrated aliases for Acrodysplasia Scoliosis:

Name: Acrodysplasia Scoliosis 20 58 71
Prata-Liberal-Goncalves Syndrome 20 58 29
Brachydactyly-Scoliosis-Carpal Fusion Syndrome 20 58
Prata Liberal Goncalves Syndrome 71

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C538180 C538277
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 72 C2931761 C2931790
Orphanet 58 ORPHA2956
UMLS 71 C2931761 C2931790

Summaries for Acrodysplasia Scoliosis

GARD : 20 Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Acrodysplasia Scoliosis, is also known as prata-liberal-goncalves syndrome. Related phenotypes are scoliosis and brachydactyly

Related Diseases for Acrodysplasia Scoliosis

Symptoms & Phenotypes for Acrodysplasia Scoliosis

Human phenotypes related to Acrodysplasia Scoliosis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
3 spina bifida occulta 58 31 frequent (33%) Frequent (79-30%) HP:0003298
4 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422

Drugs & Therapeutics for Acrodysplasia Scoliosis

Search Clinical Trials , NIH Clinical Center for Acrodysplasia Scoliosis

Genetic Tests for Acrodysplasia Scoliosis

Genetic tests related to Acrodysplasia Scoliosis:

# Genetic test Affiliating Genes
1 Prata-Liberal-Goncalves Syndrome 29

Anatomical Context for Acrodysplasia Scoliosis

Publications for Acrodysplasia Scoliosis

Variations for Acrodysplasia Scoliosis

Expression for Acrodysplasia Scoliosis

Search GEO for disease gene expression data for Acrodysplasia Scoliosis.

Pathways for Acrodysplasia Scoliosis

GO Terms for Acrodysplasia Scoliosis

Sources for Acrodysplasia Scoliosis

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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