Synonym(s)
amelogenesis imperfecta; enamel hypoplasia with curly hair; Hair-Tooth-Bone Syndrome; kinky hair syndrome; Robinson-Miller-Worth syndrome; taurodentism; taurodontism; TDO syndrome; tricho-dento-osseous syndromes
HistoryThis section has been translated automatically.
Robinson, 1966; Liechtenstein, 1972
DefinitionThis section has been translated automatically.
Special form of ectodermal dysplasia with tooth and hair anomalies in combination with osteosclerosis. Clinically, 3 types are distinguished, whereby type II and III differ from type I by facial shape and radiological changes.
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EtiopathogenesisThis section has been translated automatically.
Autosomal dominant with variable expressivity inherited mutations of the distal-less3 gene (DLX3) and the distal-less7 gene (DLX7) mapped on chromosome 17q21.2-q22
Clinical featuresThis section has been translated automatically.
Changes in hair, teeth, nails, facial dysplasia and radiologically detectable deformities of the skeleton. Normal intelligence. Depending on the clinical symptoms there are 3 types:
- Type I: Hair dysplasia: Small curly, dense hair in childhood. Tooth anomalies: Enamel hypoplasia and undercalcification, small teeth that are rapidly worn down to the gingiva, wide diastemata, taurodontia of the molars, tooth discoloration, gingival abscesses, tooth loss in the 2nd-3rd decade of life. Nail dystrophy: Flat, thickened, stripy nails that become easily brittle. Facial dysplasia: Dolichocephaly (sometimes premature suture synostoses) with balcony forehead; facial asymmetry. X-ray: osteosclerosis of the skull bones, also of the base of the skull; normal development of intelligence.
- Type II: Hair dysplasia: Small curly hair from birth, thin, slightly falling hair, little or no axillary and pubic hair, little facial hair in affected men. Dental dysplasia: hypoplasia of the enamel and undercalcification, abscesses, taurodontia of the molars, open roots of the incisors. Nail dystrophy: thin, flat, brittle nails. Facial dysmorphia: Prognathism; prominent forehead. The intelligence is normal.
- Type III: Hair dysplasia: Small curly hair, hypotrichosis of facial hair in men. Dental dysplasia: small teeth, wide diastemas, enamel hypoplasia and undercalcification, taurodontia of molars, abscesses, open necks of teeth, caries tendency. Nail dysplasias: Brittle nails. Facial dysplasias: Prominent forehead, square chin. Normal intelligence.
LiteratureThis section has been translated automatically.
- Aldred MJ, Crawford PJM (1988) Variable expression in amelogenesis imperfecta with taurodontism. J Oral Catholic 17: 327-333
- Crawford PJM, Aldred MJ (1990) Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? Clin Genet 38: 44-50
- Dodds AP et al (2003) Characterization and mRNA expression in an unusual odontogenic lesion in a patient with tricho-dento-osseous syndrome. Histol Histopathol 18: 849-854
- Hart TC (1997) Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. hum mol Genet 6: 2279-2284
- Jorgenson RJ, Warson RW (1973) Dental abnormalities in the tricho-dento-osseous syndrome. Oral Surgery 36: 693-700
- Leisti J, Sjöblom SM (1978) A new type of autosomal dominant tricho-dento-osseous syndrome. Proceedings of Birth Defects Conference (abstr.) XI: 58.
- Lichtenstein J, Warson R, Jorgenson R et al (1972) The tricho-dento-osseous (TDO) syndrome. At J Hum Genet 24: 569-582
- Melnick M, Shields ED, El-Kafrawy AH (1977) Tricho-dento-osseous syndrome: a scanning electron microscopic analysis. Clin Genet 12: 17-27
- Price JA (1998) Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet 7: 563-569
- Robinson GC et al (1966) Hereditary enamel hypoplasia, its association with characteristic hair structure. Pediatrics 37: 498-502
- Shapiro SD et al (1983) Tricho-dento-osseous syndrome: heterogeneity or clinical variability. At J Hum Genet 16: 225-236
- Shapiro SD et al (1983) Tricho-dento-osseous syndrome: heterogenecity or clinical variability. At J Hum Genet 16: 225-236
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Incoming links (9)
Amelogenesis imperfecta; Ectodermal dysplasia ; Enamel hypoplasia with curly hair; Hair-tooth-bone syndrome; Kinky hair syndrome; Robinson-miller-worth syndrome; Taurodontism; Tdo syndrome; Tricho-dento-osseous syndrome;Outgoing links (1)
Ectodermal dysplasia ;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer