Odonto-onycho-dermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: OODD
Number of Symptoms 53
OrphanetNr: 2721
OMIM Id: 257980
ICD-10: Q82.4
UMLs: C1275074
MeSH: C537742
MedDRA:
Snomed: 403762003

Prevalence, inheritance and age of onset:

Prevalence: < 15 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
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:0000613) Photophobia Frequent [Orphanet] 3/10 [HPO] 19559398 IBIS 158 / 7739
2
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
3
 (HPO:0000498) Blepharitis Frequent [Orphanet] 27 / 7739
4
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
5
 (HPO:0008070) Sparse hair 94 / 7739
6
 (HPO:0010719) Abnormality of hair texture Very frequent [Orphanet] 24 / 7739
7
 (HPO:0011359) Dry hair 16 / 7739
8
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
9
 (HPO:0000535) Sparse and thin eyebrow 7/10 [HPO] 19559398 IBIS 76 / 7739
10
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
11
 (HPO:0002231) Sparse body hair 5/8 [HPO] 19559398 IBIS 9 / 7739
12
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
13
 (HPO:0002209) Sparse scalp hair 6/10 [HPO] 19559398 IBIS 59 / 7739
14
 (HPO:0008391) Dystrophic fingernails 6 / 7739
15
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
16
 (HPO:0001798) Anonychia 28 / 7739
17
 (HPO:0002164) Nail dysplasia 82 / 7739
18
 (HPO:0001810) Dystrophic toenail 7/11 [HPO] 19559398 IBIS 9 / 7739
19
 (HPO:0000975) Hyperhidrosis 2/10 [HPO] 19559398 IBIS 64 / 7739
20
 (HPO:0007410) Palmoplantar hyperhidrosis 6 / 7739
21
 (HPO:0000966) Hypohidrosis 3/10 [HPO] 19559398 IBIS 41 / 7739
22
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
23
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
24
 (HPO:0006349) Agenesis of permanent teeth 10/10 [HPO] 19559398 IBIS 13 / 7739
25
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
26
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
27
 (HPO:0006481) Abnormality of primary teeth 5/11 [HPO] 19559398 IBIS 2 / 7739
28
 (HPO:0000668) Hypodontia 81 / 7739
29
 (HPO:0010298) Smooth tongue 2 / 7739
30
 (HPO:0000956) Acanthosis nigricans Frequent [Orphanet] 54 / 7739
31
 (HPO:0000992) Cutaneous photosensitivity Frequent [Orphanet] 75 / 7739
32
 (HPO:0000958) Dry skin 6/10 [HPO] 19559398 IBIS 152 / 7739
33
 (HPO:0005595) Generalized hyperkeratosis 14 / 7739
34
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
35
 (HPO:0007556) Plantar hyperkeratosis 3/10 [HPO] 19559398 IBIS 8 / 7739
36
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
37
 (MedDRA:10033551) Palmar erythema 2 / 7739
38
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
39
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
40
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
41
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (MedDRA:10066295) Keratosis pilaris 11 / 7739
44
 (OMIM) Acanthosis, mild, in epidermis 1 / 7739
45
 (OMIM) Congenital absence of nails (anonychia) 1 / 7739
46
 (OMIM) Hair is absent at birth 1 / 7739
47
 (OMIM) Hypergranulosis in epidermis 1 / 7739
48
 (OMIM) Hyperkeratosis in epidermis 1 / 7739
49
 (OMIM) Longitudinal depressions on microscopic examination 1 / 7739
50
 (OMIM) Orthokeratosis in epidermis 1 / 7739
51
 (OMIM) Reduced filiform papillae 1 / 7739
52
 (OMIM) Reduced fungiform papillae 1 / 7739
53
 (OMIM) Severe hypodontia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 consanguineous Lebanese Muslim Shiite sibships, Fadhil et al. (1983) described an apparently 'new' form of ectodermal dysplasia with dystrophic nails, misshapen teeth, including peg-shaped incisors, and erythematous lesions of face and thickening of the palms and ...
Molecular genetics OMIM In affected members of 3 consanguineous Lebanese Muslim Shiite families with odontoonychodermal dysplasia, Adaimy et al. (2007) found homozygosity for the same nonsense mutation in the WNT10A gene (E233X; 606268.0001). The mutation was predicted to result in a ...