Aliases & Classifications for Santos Syndrome

MalaCards integrated aliases for Santos Syndrome:

Name: Santos Syndrome 57 70
Fibular Agenesis/hypoplasia, Oligodactylous Clubfeet, and Anonychia/nail Hypoplasia Syndrome 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
santos syndrome:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 613005
MedGen 41 C2751698
UMLS 70 C2751698

Summaries for Santos Syndrome

MalaCards based summary : Santos Syndrome, also known as fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome, is related to stocco dos santos syndrome and stocco dos santos x-linked mental retardation syndrome. An important gene associated with Santos Syndrome is SHROOM4 (Shroom Family Member 4). Related phenotypes are short stature and genu valgum

More information from OMIM: 613005

Related Diseases for Santos Syndrome

Diseases related to Santos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stocco dos santos syndrome 11.4
2 stocco dos santos x-linked mental retardation syndrome 11.0
3 anophthalmia megalocornea cardiopathy skeletal anomalies 11.0
4 polydactyly 9.9
5 brachydactyly 9.9

Graphical network of the top 20 diseases related to Santos Syndrome:



Diseases related to Santos Syndrome

Symptoms & Phenotypes for Santos Syndrome

Human phenotypes related to Santos Syndrome:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 genu valgum 31 HP:0002857
3 metatarsus adductus 31 HP:0001840
4 talipes equinovarus 31 HP:0001762
5 brachydactyly 31 HP:0001156
6 oligodactyly 31 HP:0012165
7 anonychia 31 HP:0001798
8 polydactyly 31 HP:0010442
9 syndactyly 31 HP:0001159
10 preaxial polydactyly 31 HP:0100258
11 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Skeletal Hands:
brachydactyly
syndactyly
preaxial polydactyly
postaxial polydactyly
hypoplastic distal phalanx
more
Skeletal Limbs:
acromial dimples
genua valga
limited extension, flexion, pronation and/or supination of the forearm and/or hand
fibular agenesis/hypoplasia
hypoplastic femora
more
Skeletal Feet:
talipes equinovarus
oligodactyly
clubfeet
pes metatarsus varus

Skin Nails Hair Nails:
anonychia
ungual hypoplasia

Clinical features from OMIM®:

613005 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Santos Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 SHROOM4 WNT7A

Drugs & Therapeutics for Santos Syndrome

Search Clinical Trials , NIH Clinical Center for Santos Syndrome

Genetic Tests for Santos Syndrome

Anatomical Context for Santos Syndrome

Publications for Santos Syndrome

Articles related to Santos Syndrome:

# Title Authors PMID Year
1
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. 57
19012338 2008
2
Santos syndrome is caused by mutation in the WNT7A gene. 61
28855715 2017

Variations for Santos Syndrome

Expression for Santos Syndrome

Search GEO for disease gene expression data for Santos Syndrome.

Pathways for Santos Syndrome

GO Terms for Santos Syndrome

Biological processes related to Santos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 WNT7A SHROOM4

Sources for Santos Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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