Ectodermal dysplasia - syndactyly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: EDSS
EDSS1
Number of Symptoms 11
OrphanetNr: 247820
OMIM Id: 613573
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
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000653) Sparse eyelashes 58 / 7739
2
 (HPO:0000698) Conical tooth 14 / 7739
3
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
 (HPO:0002209) Sparse scalp hair 59 / 7739
5
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
6
 (HPO:0005709) 2-3 toe cutaneous syndactyly 2 / 7739
7
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
8
 (HPO:0010765) Palmar hyperkeratosis 3 / 7739
9
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
10
 (HPO:0003777) Pili torti 24 / 7739
11
 (HPO:0001792) Small nail 55 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brancati et al. (2010) studied 2 unrelated families displaying hair and teeth abnormalities associated with cutaneous syndactyly of the hands and/or feet. One family, originally described by Boudghene-Stambouli and Merad-Boudia (1991), had 4 affected sibs born to first-cousin, ...
Molecular genetics OMIM In affected members of the Algerian family with EDSS1 described by Boudghene-Stambouli and Merad-Boudia (1991), Brancati et al. (2010) identified a homozygous mutation in the PVRL4 gene (609607.0001). In affected members of an Italian family with EDSS1, they ...