What are the symptoms? The most common problems are short stature, sparse hair, and restricted joint movements. There are often other problems with the bones and joints, which may appear as congenital hip problems, Perthes disease of the hip, and early onset osteoarthritis of other joints. Almost any joint can be affected. People with TRPS type 2 can also develop multiple exostoses, which are benign bony tumours (or lumps) that grow on the bones. Although not painful themselves, these can press on surrounding muscles or ligaments, causing limitations of movement, discomfort or pain. Some people with TRPS also suffer from learning difficulties and this is more common in TRPS type 2. People with TRPS often comment that they look similar to other people with TRPS that they have met. Orthodontic problems, deafness and susceptibility to infections can also occur. What are the causes? TRPS is a genetic condition, meaning it is caused by an alteration to a person’s genetic makeup. This person may be the first in the family with the disease, or may have inherited it from a parent. Sometimes the syndrome can be traced back through several generations. In some people, the genetic alteration may be a change in the genetic code of a gene called TRPS1 which is found on chromosome 8. In others, the whole gene may be missing. In people with TRPS type 2 (Langer-Giedion syndrome), a small piece of chromosome 8 is usually missing, which means that not only is the TRPS1 gene missing, but also another genes, and this can cause additional problems. Commonly, a gene called EXT1 is missing, which causes benign bony tumours or growths called exostoses to develop. How is it diagnosed? The diagnosis is usually made on the findings at clinical examination, and the shape of the bones (cone-shaped epiphyses) when seen on a hand X-ray. The diagnosis can in some cases be confirmed by checking the patient’s chromosomes for a deletion on chromosome 8q, or by molecular genetic analysis of the TRPS1 gene. How is it treated? There is currently no treatment that will cure the whole syndrome. Individual problems are managed as needed. In childhood, growth and development should be monitored. Simple analgesia can relieve joint pains. A reduction in mobility should be investigated as Perthes disease of the hip can frequently occur. Multiple exostoses can develop in TRPS2, typically from early to mid childhood. Adults frequently require joint replacement surgery in the fifth and sixth decades of life due to degenerative changes in the large joints. Sparse hair and premature hair loss can result in reduced self-esteem. Hair extensions may help some, but the exceptionally brittle hair seen in some patients may not support them. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal dominant with many cases occurring as a sporadic new mutation. Prenatal diagnosisChorionic villus sampling (CVS) or amniocentesis may be available for a family if the diagnosis has been confirmed on chromosome or DNA analysis. Referral to a regional genetics centre for genetic counselling is indicated. Is there support? TRPS Support Group UK Email: [email protected]Website: trpsuk.org The Group was established in 2009. It provides information and support to those affected by trichorhinophalangeal syndrome and their families. The Group offers a closed online forum as an opportunity to share experiences, knowledge and a sympathetic understanding of all aspects of the disorder. Group details last updated December 2019.
What are the symptoms? The most common problems are short stature, sparse hair, and restricted joint movements. There are often other problems with the bones and joints, which may appear as congenital hip problems, Perthes disease of the hip, and early onset osteoarthritis of other joints. Almost any joint can be affected. People with TRPS type 2 can also develop multiple exostoses, which are benign bony tumours (or lumps) that grow on the bones. Although not painful themselves, these can press on surrounding muscles or ligaments, causing limitations of movement, discomfort or pain. Some people with TRPS also suffer from learning difficulties and this is more common in TRPS type 2. People with TRPS often comment that they look similar to other people with TRPS that they have met. Orthodontic problems, deafness and susceptibility to infections can also occur.
What are the causes? TRPS is a genetic condition, meaning it is caused by an alteration to a person’s genetic makeup. This person may be the first in the family with the disease, or may have inherited it from a parent. Sometimes the syndrome can be traced back through several generations. In some people, the genetic alteration may be a change in the genetic code of a gene called TRPS1 which is found on chromosome 8. In others, the whole gene may be missing. In people with TRPS type 2 (Langer-Giedion syndrome), a small piece of chromosome 8 is usually missing, which means that not only is the TRPS1 gene missing, but also another genes, and this can cause additional problems. Commonly, a gene called EXT1 is missing, which causes benign bony tumours or growths called exostoses to develop.
How is it diagnosed? The diagnosis is usually made on the findings at clinical examination, and the shape of the bones (cone-shaped epiphyses) when seen on a hand X-ray. The diagnosis can in some cases be confirmed by checking the patient’s chromosomes for a deletion on chromosome 8q, or by molecular genetic analysis of the TRPS1 gene.
How is it treated? There is currently no treatment that will cure the whole syndrome. Individual problems are managed as needed. In childhood, growth and development should be monitored. Simple analgesia can relieve joint pains. A reduction in mobility should be investigated as Perthes disease of the hip can frequently occur. Multiple exostoses can develop in TRPS2, typically from early to mid childhood. Adults frequently require joint replacement surgery in the fifth and sixth decades of life due to degenerative changes in the large joints. Sparse hair and premature hair loss can result in reduced self-esteem. Hair extensions may help some, but the exceptionally brittle hair seen in some patients may not support them.
Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal dominant with many cases occurring as a sporadic new mutation. Prenatal diagnosisChorionic villus sampling (CVS) or amniocentesis may be available for a family if the diagnosis has been confirmed on chromosome or DNA analysis. Referral to a regional genetics centre for genetic counselling is indicated.
Is there support? TRPS Support Group UK Email: [email protected]Website: trpsuk.org The Group was established in 2009. It provides information and support to those affected by trichorhinophalangeal syndrome and their families. The Group offers a closed online forum as an opportunity to share experiences, knowledge and a sympathetic understanding of all aspects of the disorder. Group details last updated December 2019.