Search for a rare disease
Other search option(s)
Trichorhinophalangeal syndrome type 2
Disease definition
A rare multiple congenital anomalies syndrome characterized by the association of intellectual disability and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.
ORPHA:502
Classification level: DisorderSummary
Epidemiology
The prevalence is unknown.
Clinical description
The severity and number of these malformations varies between patients. The characteristic facial anomalies consist of a bulbous nose, wide prominent philtrum, thin upper lips, cauliflower ears, sparse hair and a small mandible. Growth retardation, microcephaly, hypotonia and hearing problems have also been reported. The exostosis affects mainly the extremities of the long bones and may lead to pain, functional problems or bone deformation. Exostoses and cone-shaped phalangeal epiphyses appear during the first 5 years of life, during which respiratory infections are frequent.
Etiology
The disease is caused by a microdeletion in chromosome 8q23.3-q24.13 leading to the loss of at least two genes: TRPS1 and EXT1.
Diagnostic methods
Early diagnosis of Langer-Giedon syndrome is essential in order to provide genetic counselling to affected families, and to assure orthopaedic follow-up and management of the growth and hearing problems.
Differential diagnosis
Langer-Giedon syndrome can be differentiated from trichorhinophalangeal syndrome type 1 by the presence of the exostoses.
Genetic counseling
The syndrome is transmitted in an autosomal dominant manner, but many sporadic cases have been reported.
A summary on this disease is available in Italiano (2016) Deutsch (2006) Español (2006) Français (2006) Nederlands (2006) Japanese (2019, pdf)
Detailed information
General public
- Article for general public
- Deutsch (2006, pdf) - ACHSE
- Svenska (2015) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
- Français (2021) - PNDS
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
: produced/endorsed by ERN(s) : produced/endorsed by FSMR(s)
Additional information