98:, that is malformed. The teeth can also look normal in color, but also have a physical impression of extreme fragility and thinness in appearance. Additionally, severe underbites where the top and bottom teeth fail to correctly align may be present; it is common for the affected individual to have a larger, more pronounced lower jaw and longer bones. The physical deformities that TDO causes become more noticeable with age, and emotional support for the family as well as the affected individual is frequently recommended. Adequate treatment for TDO is a team based approach, mostly involving physical therapists, dentists, and oromaxillofacial surgeons. Genetic counseling is also recommended.
461:
406:. There is no cure for TDO, but managing its oral and systemic affects is key to having the most favorable outcome from the disease. As the person affected by TDO ages, increased bone fractures may occur. The person with TDO should watch for any pimple like masses on the gum tissue, pain or soreness in the teeth and gums, broken or chipped teeth, feeling of water in the ear or severe pain in the extremities which could indicate fracture.
357:), lesions on the bone structures surrounding the teeth due to decay or trauma, or hard tissue mass. The radiographic testing is non-invasive, and involves the patient to be able to sit or stand in front of the radiographic device with their mouth closed and lips relaxed for approximately one minute. Oral abnormalities are diagnosed by a visual dental examination. A normal oral evaluation would show no signs of broken or fractured teeth,
211:
415:
dental infections can be used to manage its symptoms. A team based approach between dental specialists, oral and maxillofacial surgeons, and physicians is necessary for treating the systemic effects and improves the prognosis. It is also recommended for affected individuals to seek counseling to be better able to cope with any psychosocial problems due to oral and facial abnormalities that occur with TDO.
29:
143:
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Eustachian tubes for normal hearing, lack of mastoid pneumatization causes inflammation of the ear, general irritation, and does not allow enough air in to assist with mucus flowing out. It is not completely understood why gene mutations occur, but it is known that genetic mutations that cause disease are acquired from either or both parents at
391:
with TDO are more prone to oral hard tissue disease and early tooth loss. If restorative dentistry is performed without orthodontics to correct the protrusion of the lower jaw, a dental night guard worn at bedtimes on the upper or lower teeth to protect them from the effects of grinding may be recommended.
390:
Preventive maintenance therapy for the oral effects of TDO involve frequent dental cleanings, professional application of desensitizing medication, diet counseling, and oral hygiene instructions in proper home care and maintenance; medicated dental rinses and toothpastes are also prescribed as people
72:
genetic disorder that causes defects in hair, teeth, and bones respectively. This disease is present at birth. TDO has been shown to occur in areas of close geographic proximity and within families; most recent documented cases are in
Virginia, Tennessee, and North Carolina. The cause of this disease
327:
to the ear. The
Eustachian tube connects the middle ear to the back of the nose, and acts to create a specific pressure in the ear canal that causes vibrations to the eardrum; if adequate pressure is not attained, muffled, dull hearing results. In addition to the mastoid pneumatization assisting the
183:
type that predominates. The hypoplastic-hypomaturation type of amelogenesis imperfecta with TDO occurs where the tooth enamel depicts a generalized pitted pattern, with open contacts between the teeth as well as an open bite. A smaller number of cases are of the hypomaturation-hypoplastic case type,
418:
At home, a person with TDO may be instructed to use frequent deep conditioning treatments and low manipulation hair styling to control shedding and hair loss. Clinical treatment involves the use of radiology to determine the effects that TDO has had on the surrounding teeth and bone structures. A
111:
Hair abnormalities are very prominent in majority of the cases of TDO. Kinky/curly hair that is unusually dry and easily sheds is present at birth. In 80% of cases, the hair has a more relaxed appearance by adolescence. The presence of this hair texture type is a defining characteristic between a
414:
The hair, teeth, and skeletal side effects of TDO are lifelong, and treatment is used to manage those effects. A person with TDO has the same life expectancy as a person without TDO. There are no cures or medications used to treat systemic effects of TDO, but medications for the frequent ear and
116:
deficiencies are marked by the presence of having a long skull relative to its width, or protrusive foreheads due to increased thickness of the cranial bones and premature closing of the associated sutures in the skull. The long bones in the body (arms, legs) are also abnormally long and tend to
93:
in which the abnormal growth patterns of the teeth result in severe external and internal defects. The hair defects are characterized as being rough, course, with profuse shedding. Hair is curly and kinky at infancy but later straightens. Dental defects are characterized by dark-yellow/brownish
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It is phenotypically difficult to diagnose between TDO and
Amelogenesis imperfecta of the hypomaturation-hypoplasia type with taurodontism (AIHHT) as they are very closely linked phenotypically during adulthood, and the only distinguishing characteristic is found during genetic analysis by
163:
which maps the shape of the forming tooth roots during active differentiation. Amelogenesis imperfecta, an abnormal formation of the enamel or external layer of the crown of the tooth, may also be present where the tooth enamel may be thin or absent. There are several clinical subsets of
129:
seen in people with TDO. There are no known pathological problems associated with hair and bone changes in people with this disease. Changes in the long bones tend to appear later in development, but changes in the teeth appear once the teeth being to form, called
352:
are used to detect skeletal abnormalities in TDO cases; these radiographs along with the phenotypic effects of the disease are often enough evidence for proper diagnosis. In TDO, radiologic imaging almost always shows evidence of hardening of bone tissue
201:
due to abnormalities in skeletal development. The oral abnormalities are evaluated by radiographs and visual examination. Oral radiographs are frequently repeated due to the high incidence of infection due to abnormal biting patterns seen in TDO cases.
487:
Amelogenesis imperfecta hypomaturation type with taurodontism are often confused. Amelogenesis imperfecta of the hypomaturation type with taurodontism (AIHHT) has no hair or bone changes which helps to differentiate between TDO cases and AIHHT.
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737:
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in exon 3 of the DLX-3 gene. Additionally, the current research shows that there is heavy reliance on the physical characteristics in the differentiation of TDO verses AIHHT and the severity and prevalence of their expression. For instance,
196:
Due to improper tooth development, TDO patients have high rates of dental caries causing dental abscess. The under maturation of the enamel causes the tooth structure to be softer, and more susceptible to the effects of
158:
which is characterized by vertically enlarged pulp chambers at the expense of the roots of the teeth; the floor of the pulp chamber and furcation is moved apically down. This is due to the failure of the
Hertwig
501:
is severely expressed in TDO, but mildly expressed in AIHHT. Currently, researchers are trying to identify the reason for the alteration in the DLX-3 and DLX-7 genes that are responsible for AIHHT versus TDO.
268:
and is important for embryonic development of hard bone tissue in the teeth, skull, and long bones such as in the arms and legs. During normal tooth development, DLX3 is predominantly expressed in the inner
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382:(PCR) amplification. This type of test in diagnosis of TDO is only used during research or if there is a concern of genetic issue to a particular individual whose family member has been diagnosed with TDO.
134:. The hair and bone abnormalities are evaluated radiographically during initial diagnosis, and visually during the course of the disease. Radiographic exams may be repeated if there is suspect of fracture.
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also called a severe underbite, is also a prominent feature in TDO. Prognathism defects are diagnosed based the level of severity that this condition interferes with being able to chew or speak properly.
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series of appointments with the healthcare team are usually necessary to correct TDO abnormalities with treatment duration lasting from several months to through full oral-facial maturation stages.
648:
Price, J; Walker, S.; Crawford, P.; Aldred, M.; Hart, T. (1999). "Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions".
172:-hypomaturation subtype; the hypomaturation-hypoplastic is less common in individuals with TDO. The difference between the 2 dominant subtypes is the changes seen in the
112:
diagnosis of TDO verses amelogenesis imperfecta with hypomaturation. Additionally, in TDO the nails are usually abnormally thin, brittle, and split frequently.
516:
467:
procedure: unhealthy or injured tooth, subsequent creation of an access cavity with a dental handpiece, cleaning & shaping the root canals with an
276:. In TDO cases, DLX3 is expressed in the outer enamel epithelium and leads to the abnormally thin enamel observed in the disease, which leads to tooth
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joints. Consequently, 95% of people with TDO that are 16 years old or younger show skeletal abnormalities before full maturation takes place.
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also known as PCR is used to amply pieces of DNA and observed for the 141 base pair allele as a result of a deletion of four
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of tooth enamel, no spacing between teeth, no soft tissue mass or sign of dental abscess, and a bite relationship where the
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Shows the severe underbite pattern that is a common development pattern in individuals with Tricho Dento
Osseous Syndrome
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are often performed to improve the physical look of the teeth and to strengthen the weak enamel caused by TDO.
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and is most often the cause of dental abscess seen in TDO persons. DLX3 in TDO is also responsible for upper
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345:
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121:, commonly seen in TDO cases is characterized by an increase in bone density, affecting the skull and the
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relationship vertically between the teeth to improve functioning. Esthetic procedures such as dental
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pneumatization occurs at about 6 months of ages and acts to minimize pressure fluctuations in the
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TDO is diagnosed by radiographic imaging, physical characteristics of the disease, and
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365:(bottom) teeth interdigitate within a normal plane of 1-2mm behind and underneath the
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Dental abscess commonly seen in people with underdeveloped tooth enamel caused by TDO.
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In extreme cases, tooth loss is inevitable, and the patient will consult with a
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of bone formation. All patients with TDO have two co-existing conditions called
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occurs in 82% of the cases and is rarely prevalent outside of TDO diagnosis.
627:"Guideline on Dental Management of Heritable Dental Developmental Anomalies"
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Mandibular
Prognathism Development Pattern in Tricho Dento Osseous Syndrome
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in which the enamel structure is softer due to the under maturation of
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List of dental abnormalities associated with cutaneous conditions
577:"Tricho-Dento-Osseous Syndrome: diagnosis and dental management"
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located behind the jawbone on the skull, as well as a shortened
74:
236:. Known mutations include a 4-basepair deletion in exon 3 of
547:"Developmental Defects of the Tricho Dento Osseous Syndrome"
296:), abnormally thin brittle nails, and premature closing of
264:, and dermal cell differentiation. It is expressed in the
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surgery may be required to establish a more appropriate
719:
793:
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77:(distal-less 3) gene, which controls hair follicle
40:
21:
425:procedures are routinely recommended due to treat
693:"What is a gene mutation and how do they occur?"
398:to determine tooth replacement options such as
256:DLX3 plays numerous significant roles during
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94:colored teeth, thin and/or possibly pitted
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154:100% of people diagnosed with TDO have
292:of the long bones, long narrow head (
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471:, and restoration with gutta-percha
699:. U.S. National Library of Medicine
581:International Journal of Dentistry
303:Lack of mastoid pneumatization by
14:
662:10.1034/j.1399-0004.1999.550105.x
517:Tricho–rhino–phalangeal syndrome
691:National Institutes of Health.
188:during development. Mandibular
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315:of the ear. The mastoid lies
59:Tricho–dento–osseous syndrome
845:Autosomal dominant disorders
168:, but common to TDO is the
107:Hair and bone abnormalities
861:
835:Syndromes affecting teeth
830:Congenital oral disorders
490:Polymerase chain reaction
380:Polymerase Chain Reaction
35:
26:
575:Al-Batayneh, O. (2012).
697:Genetics Home Reference
166:amelogenesis imperfecta
65:) is a rare, systemic,
840:Rare genetic syndromes
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346:cephalometric analysis
344:. Radiographs such as
319:to the lower jawbone (
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161:epithelial root sheath
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117:fracture very easily.
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73:is a mutation in the
373:Overlapping diseases
350:panoramic radiograph
594:10.1155/2012/514692
431:periodontal abscess
794:External resources
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455:veneer (dentistry)
220:
216:autosomal dominant
148:
138:Oral abnormalities
102:Signs and symptoms
817:
816:
650:Clinical Genetics
451:crown (dentistry)
262:connective tissue
222:TDO is caused by
132:primary dentition
87:enamel hypoplasia
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16:Medical condition
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553:on April 5, 2014
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313:Eustachian tubes
47:Medical genetics
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483:Recent research
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234:DLX gene family
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123:mastoid process
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119:Osteosclerosis
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551:the original
499:taurodontism
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429:exposure or
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271:tooth enamel
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803:MedlinePlus
494:nucleotides
439:mastication
427:dental pulp
284:thickness,
190:prognathism
186:ameloblasts
170:hypoplastic
152:oral cavity
824:Categories
779:DiseasesDB
587:: 514692.
523:References
465:Root canal
423:Endodontic
386:Prevention
363:mandibular
274:epithelium
248:mutation.
246:frameshift
181:phenotypic
179:, and the
703:April 29,
410:Treatment
367:maxillary
359:attrition
355:sclerosis
336:Diagnosis
317:posterior
278:attrition
230:mutations
224:autosomal
83:induction
67:autosomal
51:dentistry
42:Specialty
678:11838758
670:10466415
613:22969805
557:March 7,
506:See also
447:esthetic
443:skeletal
404:dentures
321:mandible
286:calvaria
266:placenta
227:dominant
218:pattern.
70:dominant
773:D011378
604:3434396
473:filling
309:Mastoid
298:fibrous
282:cranial
258:osseous
232:in the
199:bruxism
150:In the
114:Cranial
808:003026
762:524.10
676:
668:
611:
601:
475:and a
445:, and
325:distal
323:) and
177:matrix
174:enamel
96:enamel
784:29354
747:K07.1
674:S2CID
630:(PDF)
477:crown
206:Cause
127:ramus
768:MeSH
757:9-CM
705:2014
666:PMID
609:PMID
585:2012
559:2014
238:DLX3
89:and
81:and
75:DLX3
753:ICD
738:ICD
658:doi
599:PMC
589:doi
453:or
348:or
240:on
214:an
63:TDO
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742:10
695:.
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