Fried's tooth and nail syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ECTD8
Number of Symptoms 16
OrphanetNr: 99672
OMIM Id: 602401
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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:0100840) Aplasia/Hypoplasia of the eyebrow 117 / 7739
2
(HPO:0006482) Abnormality of dental morphology 81 / 7739
3
(HPO:0006349) Agenesis of permanent teeth 13 / 7739
4
(HPO:0200102) Sparse or absent eyelashes 64 / 7739
5
(HPO:0001572) Macrodontia 9 / 7739
6
(HPO:0002209) Sparse scalp hair 59 / 7739
7
(HPO:0001810) Dystrophic toenail 9 / 7739
8
(HPO:0008391) Dystrophic fingernails 6 / 7739
9
(HPO:0007436) Hair-nail ectodermal dysplasia 5 / 7739
10
(OMIM) Normal sweating 13 / 7739
11
(OMIM) Thin body hair 3 / 7739
12
(OMIM) Fine scalp hair 1 / 7739
13
(OMIM) Irregular teeth 1 / 7739
14
(OMIM) Hairs can be painlessly plucked with little force 1 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(OMIM) Thin, flat fingernail plates 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-8 is an autosomal recessive disorder characterized by ...
Clinical Description OMIM Fried (1977) described 2 cousins, both born of consanguineous marriages in the Egyptian Karaite community, with hypotrichosis, hypodontia, and dystrophic toenails, who showed 'distinct clinical similarity' to the syndrome described by Witkop (1965) (189500) except for mode of ...
Molecular genetics OMIM - Exclusion Studies

Tariq et al. (2008) sequenced 3 candidate genes, CDH7, CDH19, AND ZNF407, within the linkage interval on chromosome 18q22 identified for an autosomal recessive form of ectodermal dysplasia but did not find any ...