Ectodermal dysplasia, tricho-odonto-onychial type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr: 1818
OMIM Id: 129510
ICD-10: Q82.4
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: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
2
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
3
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
4
 (HPO:0200102) Sparse or absent eyelashes Frequent [Orphanet] 64 / 7739
5
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
6
 (HPO:0000668) Hypodontia 81 / 7739
7
 (HPO:0008587) Mild neurosensory hearing impairment 2 / 7739
8
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Frequent [Orphanet] 28 / 7739
9
 (HPO:0100783) Breast aplasia 19 / 7739
10
 (HPO:0003187) Breast hypoplasia 17 / 7739
11
 (HPO:0002561) Absent nipple 12 / 7739
12
 (HPO:0000765) Abnormality of the thorax 64 / 7739
13
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
14
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
15
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
16
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
17
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
18
 (HPO:0007521) Irregular hyperpigmentation of back 1 / 7739
19
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
20
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Focal linear dermal hypoplasia of nasal tip 1 / 7739
23
 (OMIM) Normal sweating 13 / 7739
24
 (OMIM) Athelia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tsakalakos et al. (1986) described a seemingly 'new' form of ectodermal dysplasia and gave a useful discourse on the nosology of this complicated group of disorders. The proposita had hypotrichosis, hypodontia, focal linear dermal hypoplasia of the tip ...