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Trichorhinophalangeal syndrome type 1 and 3
Disease definition
A rare genetic disease characterized by sparse scalp hair, lateral thinning of eyebrows, mild facial dysmorphism (bulbous tip of the nose, long flat philtrum, thin upper lip vermilion, and protruding ears), and skeletal anomalies including cone-shaped phalangeal epiphyses, hip dysplasia, and short stature. Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types.
ORPHA:77258
Classification level: DisorderA summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2007) Italiano (2007)
Detailed information
General public
- Article for general public
- Deutsch (2006, pdf) - ACHSE
- Svenska (2015) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.