Tricho-odonto-onychial dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region
Number of Symptoms 21
OrphanetNr: 3355
OMIM Id: 275450
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
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
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:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
2
 (HPO:0001965) Abnormality of the scalp Frequent [Orphanet] 10 / 7739
3
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
5
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
6
 (HPO:0000674) Anodontia 18 / 7739
7
 (HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
8
 (HPO:0000924) Abnormality of the skeletal system Frequent [Orphanet] 114 / 7739
9
 (HPO:0000995) Melanocytic nevus 63 / 7739
10
 (HPO:0010719) Abnormality of hair texture Very frequent [Orphanet] 24 / 7739
11
 (HPO:0008404) Nail dystrophy 89 / 7739
12
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
13
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
14
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
15
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
16
 (HPO:0002164) Nail dysplasia 82 / 7739
17
 (OMIM) Nevus pigmentosus 1 / 7739
18
 (OMIM) Severe hypotrichosis 2 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Secondary anodontia 1 / 7739
21
 (OMIM) Frontoparietal bone deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pinheiro et al. (1983) described an apparently 'new' form of ectodermal dysplasia in 4 sisters in a sibship of 8 women and 5 men. The condition combined severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, ...