Tricho-dento-osseous syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TDO
tdo syndrome
Number of Symptoms 33
OrphanetNr: 3352
OMIM Id: 190320
ICD-10: Q82.4
UMLs: C0265333
MeSH: C536549
MedDRA:
Snomed: 38993008

Prevalence, inheritance and age of onset:

Prevalence: > 30 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
Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic hair shaft abnormality
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000679) Taurodontia Very frequent [Orphanet] 27 / 7739
2
 (HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
3
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
4
 (HPO:0000264) Abnormality of the mastoid 1 / 7739
5
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
6
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
7
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
8
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
9
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
10
 (HPO:0009119) Aplasia/Hypoplasia of the frontal sinuses Frequent [Orphanet] 6 / 7739
11
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
12
 (HPO:0000687) Widely spaced teeth 40 / 7739
13
 (HPO:0000691) Microdontia 104 / 7739
14
 (HPO:0012371) Hyperplasia of midface Frequent [Orphanet] 10 / 7739
15
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
16
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
17
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
18
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
19
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
20
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
21
 (HPO:0001808) Fragile nails 21 / 7739
22
 (HPO:0002224) Woolly hair Very frequent [Orphanet] 26 / 7739
23
 (HPO:0001595) Abnormality of the hair 89 / 7739
24
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
25
 (OMIM) Small and widely spaced teeth 4 / 7739
26
 (OMIM) Poorly pneumatized mastoids 1 / 7739
27
 (OMIM) Thin enamel 2 / 7739
28
 (OMIM) Periapical abscesses 1 / 7739
29
 (OMIM) Pitted teeth 2 / 7739
30
 (OMIM) Increased bone density, mild-moderate (skull, spine, long bones) 1 / 7739
31
 (OMIM) Kinky hair 2 / 7739
32
 (OMIM) Obliteration of calvarial diploe 1 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Trichodentoosseous syndrome is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013).
Clinical Description OMIM Robinson and Miller (1966) described autosomal dominant inheritance of enamel hypoplasia and hypocalcification with associated strikingly curly hair. Lichtenstein et al. (1972) traced the same condition through 6 generations of an Irish-American family. Affected members of this family ...
Molecular genetics OMIM Price et al. (1998) noted that 2 members of the distal-less homeobox gene family, DLX3 and DLX7 (601911), map to the same region as TDO, namely, chromosome 17q21. They described genomic cloning and sequencing of both the human ...