Tricho-rhino-phalangeal syndromeQ78.6
Synonym(s)
Ale-Calo Syndrome; Dysostosis syndrome peripheral; Dysplasia tricho-rhino-phalangeal; Exostoses multiple; Exostoses multiple cartilaginous; Klingmüller-Langer-Giedion Syndrome; mental retardation syndrome; multiple cartilaginous exostoses; multiple exostoses; peripheral dysostosis syndrome; tricho-rhino-phalangeal dysplasia; TRPD I; TRPS I
HistoryThis section has been translated automatically.
Klingmüller, 1956; Giedion, 1966
DefinitionThis section has been translated automatically.
Malformation syndrome with thinning hair growth, phalangeal cone epiphyses and typical facial dysmorphia with hand dysplasia, diffuse hypotrichia with easily breaking off hair and Hertogeschem signs. In type II there are also multiple cartilaginous exostoses.
EtiopathogenesisThis section has been translated automatically.
- Type I: Autosomal dominant inheritance with variable penetrance of deletion mutations of the TPRS1 gene mapped on gene locus 8q24.1.
- Type II: Mostly spontaneous, less frequently autosomal-dominant inherited deletions of the TPRS1 gene as well as of the EXT1 gene mapped on gene locus 8q24.11-q24.13.
Clinical featuresThis section has been translated automatically.
cone epiphyses on the phalanges. Pear-shaped deformation of the nose (soft nasal cartilage), moderately conspicuous in frontal view. High philtrum, thin, thinning hair, possibly early alopecia. Often Perthes-like, unilateral or bilateral changes of the femoral head. Mental retardation (especially with type II).
LiteratureThis section has been translated automatically.
- Bühler EM et al (1987) A final word on the tricho-rhino-phalangeal syndrome. Clin Genet 31: 273-275
- Gentile M et al (2003) A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I. Clin Genet 63: 166-167
- Giedion A (1966) The tricho-rhino-phalangeal syndrome. Helv Paediat Acta 21: 475-482
- Giedion A (1969) Peripheral dysostosis (pD)--a collective term. Progress Roentgenstr 110: 507-534
- Giedion A et al (1973) Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv paediatr Acta 28: 249-259
- Hilton MJ et al (2002) Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet 47: 103-106
- Klingmüller G (1956) On peculiar constitutional anomalies in 2 sisters and their relationship to more recent developmental pathological findings Dermatologist 7: 105-113
- Korting GW (1978) tricho-rhino-phalangeal syndrome of Klingmüller-Giedion. Nude. Dermatol 4: 81-82
- Malik TH et al (2002) Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes. Mol Cell Biol 22: 8592-8600
- Marchau FE, Van Roy BC et al (1993) Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24 At J Med Genet 45: 450-455