Aliases & Classifications for Santos Syndrome

MalaCards integrated aliases for Santos Syndrome:

Name: Santos Syndrome 58 74
Fibular Agenesis/hypoplasia, Oligodactylous Clubfeet, and Anonychia/nail Hypoplasia Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
santos syndrome:
Inheritance autosomal dominant inheritance


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 genu valgum and short stature

Description 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 12.2
2 stocco dos santos x-linked mental retardation syndrome 11.1
3 anophthalmia megalocornea cardiopathy skeletal anomalies 11.1

Symptoms & Phenotypes for Santos Syndrome

Human phenotypes related to Santos Syndrome:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 genu valgum 33 HP:0002857
2 short stature 33 HP:0004322
3 metatarsus adductus 33 HP:0001840
4 talipes equinovarus 33 HP:0001762
5 brachydactyly 33 HP:0001156
6 anonychia 33 HP:0001798
7 oligodactyly 33 HP:0012165
8 syndactyly 33 HP:0001159
9 preaxial polydactyly 33 HP:0100258
10 postaxial polydactyly 33 HP:0100259
11 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Santos Syndrome:

47
# 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 Year
1
Santos syndrome is caused by mutation in the WNT7A gene. ( 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 SHROOM4 WNT7A

Sources for Santos Syndrome

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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