Aliases & Classifications for Santos Syndrome

MalaCards integrated aliases for Santos Syndrome:

Name: Santos Syndrome 57 73
Fibular Agenesis/hypoplasia, Oligodactylous Clubfeet, and Anonychia/nail Hypoplasia Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 12.1
2 stocco dos santos x-linked mental retardation syndrome 11.0
3 anophthalmia megalocornea cardiopathy skeletal anomalies 11.0

Symptoms & Phenotypes for Santos Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Santos Syndrome:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 genu valgum 32 HP:0002857
2 short stature 32 HP:0004322
3 metatarsus adductus 32 HP:0001840
4 talipes equinovarus 32 HP:0001762
5 brachydactyly 32 HP:0001156
6 anonychia 32 HP:0001798
7 oligodactyly 32 HP:0012165
8 syndactyly 32 HP:0001159
9 preaxial polydactyly 32 HP:0100258
10 postaxial polydactyly 32 HP:0100259
11 polydactyly 32 HP:0010442

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 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 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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