Trichodental dysplasia

Preferred Label : Trichodental dysplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Salinas and Spector (1980) reported 2 pedigrees in which an association of hypodontia and abnormal hair was found in 10 persons. Autosomal dominant inheritance of the disorder was confirmed in 2 other families (Kersey, 1987; Eteson and Clark, 1989). Missing teeth, peg-shaped incisors, and shell teeth were the most common dental abnormalities. The hair in most patients was fine, sparse, dull, and slow growing. There was considerable intra- and interfamilial variability. Giannotti et al. (1995) described a sporadic case of trichodental dysplasia in an Italian girl who also had mild microcephaly and mental retardation. *FIELD* RF 1. Eteson, D. J.; Clark, R. D.: A new autosomal dominant tricho-dental dysplasia. (Abstract) Am. J. Med. Genet. 34: 139 only, 1989. 2. Giannotti, A.; Digilio, M. C.; Albertini, G.; Mingarelli, R.; Dallapiccola, B.: Sporadic trichodental dysplasia with microcephaly and mental retardation. Clin. Dysmorph. 4: 334-337, 1995. 3. Kersey, P. J. W.: Tricho-dental syndrome: a disorder with a short hair cycle. Brit. J. Derm. 116: 259-263, 1987. 4. Salinas, C. F.; Spector, M.: Tricho-dental syndrome.In: Brown, A. C.; Crounse, R. G. (eds.): Hair, Trace Elements, and Human Illness. New York: Praeger 1980. Pp. 240-256. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 601453;

Details

Origin ID

601453;

UMLS CUI

C0406724;

Currated CISMeF NLP mapping
- Trichodental syndrome [MeSH concept]
- Trichodental syndrome [ORDO Disease]
- Trichodental syndrome (disorder) [SNOMED CT concept]
- trichodental syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brittle hair [HPO term]
- Conical tooth [HPO term]
- Fine hair [HPO term]
- Hypodontia [HPO term]
- Microcephaly [HPO term]
- Odontodysplasia [HPO term]
- Slow-growing hair [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
ORDO concept(s)
- Trichodental syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichodental syndrome [ORDO Disease]
- Trichodental syndrome [MeSH concept]
- Trichodental syndrome (disorder) [SNOMED CT concept]
- trichodental syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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