Odonto-tricho-ungual-digito-palmar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: otudp syndrome
Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
Number of Symptoms 22
OrphanetNr: 69082
OMIM Id: 601957
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 21 cases [Orphanet]
Inheritance: Autosomal dominant
[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:0012471) Thick vermilion border 115 / 7739
2
 (HPO:0000303) Mandibular prognathia 179 / 7739
3
 (HPO:0000689) Dental malocclusion 114 / 7739
4
 (HPO:0000695) Natal tooth 42 / 7739
5
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
6
 (HPO:0010034) Short 1st metacarpal 19 / 7739
7
 (HPO:0001857) Short distal phalanx of toe 6 / 7739
8
 (HPO:0000954) Single transverse palmar crease 162 / 7739
9
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
10
 (HPO:0010105) Short first metatarsal 4 / 7739
11
 (HPO:0006189) Prominent interdigital folds 1 / 7739
12
 (HPO:0008404) Nail dystrophy 89 / 7739
13
 (HPO:0010719) Abnormality of hair texture 24 / 7739
14
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
15
 (HPO:0002164) Nail dysplasia 82 / 7739
16
 (MedDRA:10072883) Brachydactyly 153 / 7739
17
 (OMIM) Straw-like fragile hair 1 / 7739
18
 (OMIM) Thick, coarse lips 1 / 7739
19
 (OMIM) Irregular diameter of hair shaft with hypopigmentation and tendency to fracture (light microscopy) 1 / 7739
20
 (OMIM) Single thumb creases 1 / 7739
21
 (OMIM) Trichodystrophy 1 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mendoza and Valiente (1997) described an apparently 'new' autosomal dominant ectodermal dysplasia syndrome, which they designated odontotrichoungual-digital-palmar syndrome. In 2 brothers, their mother, and 18 other relatives in 5 generations, the authors observed natal teeth, trichodystrophy, prominent interdigital ...