SANTOS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: FIBULAR AGENESIS/HYPOPLASIA, OLIGODACTYLOUS CLUBFEET, AND ANONYCHIA/NAIL HYPOPLASIA SYNDROME
Number of Symptoms 22
OrphanetNr:
OMIM Id: 613005
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0012165) Oligodactyly 18 / 7739
2
 (HPO:0001857) Short distal phalanx of toe 6 / 7739
3
 (HPO:0001159) Syndactyly 140 / 7739
4
 (HPO:0100259) Postaxial polydactyly 85 / 7739
5
 (HPO:0001762) Talipes equinovarus 309 / 7739
6
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
7
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
8
 (HPO:0001840) Metatarsus adductus 49 / 7739
9
 (HPO:0002857) Genu valgum 144 / 7739
10
 (HPO:0100258) Preaxial polydactyly 39 / 7739
11
 (HPO:0004322) Short stature 1232 / 7739
12
 (HPO:0001798) Anonychia 28 / 7739
13
 (OMIM) Asymmetric lower limbs 1 / 7739
14
 (OMIM) Ungual hypoplasia 1 / 7739
15
 (OMIM) Limited extension, flexion, pronation and/or supination of the forearm and/or hand 1 / 7739
16
 (OMIM) Hypoplastic femora 1 / 7739
17
 (OMIM) Pes metatarsus varus 1 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (OMIM) Fibular agenesis/hypoplasia 1 / 7739
20
 (OMIM) Acromial dimples 3 / 7739
21
 (MedDRA:10072883) Brachydactyly 153 / 7739
22
 (OMIM) Swan neck defect of the finger 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Santos et al. (2008) reported 6 members of a Brazilian family with short stature due to fibular agenesis or hypoplasia, clubfeet with oligodactyly, acromial dimples, motion limitations of the forearms and/or hands, and severe nail hypoplasia or anonychia ...