Ectodermal dysplasia - cutaneous syndactyly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: EDCS
EDSS2
Number of Symptoms 19
OrphanetNr: 247827
OMIM Id: 613576
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
2
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
3
 (HPO:0000400) Macrotia 108 / 7739
4
 (HPO:0007475) Congenital bullous ichthyosiform erythroderma 4 / 7739
5
 (HPO:0000975) Hyperhidrosis 64 / 7739
6
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
7
 (HPO:0001006) Hypotrichosis 219 / 7739
8
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
9
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
10
 (HPO:0001640) Cardiomegaly 81 / 7739
11
 (OMIM) Yellowish fingernails 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Hard scaly skin 1 / 7739
14
 (OMIM) Syndactyly, bilateral partial cutaneous 1 / 7739
15
 (OMIM) Yellowish toenails 1 / 7739
16
 (OMIM) Hypoplastic flat nails 1 / 7739
17
 (OMIM) Epidermolytic hyperkeratosis, mild 1 / 7739
18
 (OMIM) Thin body hair 3 / 7739
19
 (OMIM) Pointed nose 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tariq et al. (2009) described a novel ectodermal dysplasia-syndactyly syndrome (EDSS2), which they called ectodermal dysplasia-cutaneous syndactyly (EDCS), in 4 sibs of first-cousin Pakistani parents. Clinical features included large prominent ear pinnae, tooth enamel hypoplasia, hypoplastic nails, bilateral ...