Dermo-odonto dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 1660
OMIM Id: 125640
ICD-10: Q82.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[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:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
2
 (HPO:0000164) Abnormality of the teeth 291 / 7739
3
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
4
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
5
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
6
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
7
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
8
 (HPO:0002552) Trichodysplasia 4 / 7739
9
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
10
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
11
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
12
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
13
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
14
 (HPO:0002164) Nail dysplasia 82 / 7739
15
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
16
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
17
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
18
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (OMIM) Mild variable ectodermal dysplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In Brazil, Pinheiro and Freire-Maia (1983) studied a Caucasian family with 11 persons (7 women, 4 men) in 4 generations with a mild and variable pure ectodermal dysplasia manifested by skin, tooth and nail abnormalities, except for the ...