Taurodontia - absent teeth - sparse hair

General Information (adopted from Orphanet):

Synonyms, Signs: TAURODONTIA, ABSENT TEETH, AND SPARSE HAIR
Number of Symptoms 11
OrphanetNr: 2731
OMIM Id: 272980
ICD-10:
UMLs: C1848909
MeSH: C536945
MedDRA:
Snomed:

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: 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:0000187) Broad alveolar ridges Frequent [Orphanet] 14 / 7739
2
 (HPO:0000677) Oligodontia 41 / 7739
3
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
4
 (HPO:0000679) Taurodontia Very frequent [Orphanet] 27 / 7739
5
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
6
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
7
 (HPO:0008070) Sparse hair 94 / 7739
8
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Normal sweating 13 / 7739
11
 (OMIM) Deep palatal fovea 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stenvik et al. (1972) reported 4 Norwegian sibs with congenitally missing teeth and sparse hair. Three of the 4 sibs had taurodontia. Nails and ability to perspire were not specifically mentioned. The parents were not evaluated.

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