FaCD Online Syndrome Fact Sheet

Last updated: 16 Feb 2011

Name: Langer-Giedion syndrome

Synonym: Trichorhinophalangeal syndrome type 2, TRPS II

Mode of Inheritance: cgd/ de novo/ AD

Genes

EXT1, mapped to 8q24.11-q24.13
TRPS1, mapped to 8q24.11-q24.13

Tumor features

exostoses

Tumor features (possible)

osteochondroma (enchondroma)

Non-tumor features

developmental delay/mental deficiency/mental retardation
epiphyses, cone-shaped
hypotrichosis
joint laxity
large ears
microcephaly
micrognathia
nasal bridge, broad
nose, bulbous
short stature
skin, redundant

Comment

Clinical hallmarks are multiple exostoses, cone-shaped epiphysis, joint laxity, short stature, developmental delay, loose skin and a characteristic facies[1;2]. Most cases of Langer-Giedion syndrome are sporadic, caused by a de novo contiguous gene deletion involving EXT1 and TRPS[3;4]. Osteochondroma has been reported [5].

References

[1] Hall BD, Langer LO, Giedion A, Smith DW, Cohen MM, Jr., Beals RK, Brandner M. Langer-Giedion syndrome. Birth Defects Orig Artic Ser 1974; 10(12):147-164.
[2] Bauermeister S, Letts M. The orthopaedic manifestations of the Langer-Giedion syndrome. Orthop Rev 1992; 21(1):31-35.
[3] Ludecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJH, Wells DE, et al. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 1995; 4(1):31-36.
[4] Nardmann J, Tranebjaerg L, Horsthemke B, Ludecke HJ. The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions. Hum Genet 1997; 99(5):638-643.
[5] Miyamoto K, Sakaguchi Y, Hosoe H, Mori A, Yamazaki S, Hattori S, Shimizu K. Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome). Spinal Cord. 2005 Mar;43(3):190-4.