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Langer-Giedion Syndrome
Tuesday, 24 August 2004
Monday, 18 July 2005
Trichorhinophalangeal Syndrome Type II

What

Trichorhinophalangeal Syndrome Type II (TRPSII) is a rare, inherited, genetic disorder that is characterized by craniofacial, skeletal, and central nervous system anomalies. Various structural abnormalities are the most consistent traits of this disease, yet there is the potential for a number of more serious complications.

Who

The incidence of TRPSII is unknown, however it runs in families and is inherited in an autosomal dominant fashion. Affected individuals often inherit one copy of the abnormal gene from an affected parent. Males and females are equally affected and there is no racial predilection.

Signs and Symptoms

Children with TRPSII may exhibit the following signs and symptoms: growth retardation/short stature, bony growths called exostoses on certain bones, hearing loss or learning difficulties, recurrent upper respiratory infections, large ears, spinal scoliosis (abnormal curvature of the spine), poor muscle tone, small nose, thin lips and sparse hair on the scalp. Other conditions that occur less frequently are heart defects, gastrointestinal defects, seizure disorders, overly flexible joints, excess skin folds, mental retardation and very late speech acquisition.

Possible Causes

The genetic abnormality that leads to TRPSII has been identified and it is located on chromosome 8. There are at least two affected genes. The first is called Hereditary Multiple Exostoses Type 1 (EXT1). Deletion of this gene causes a disorder of the same name (EXT1), which is characterized by benign bony growths on various bones in the body. The second gene involved is Trichorhinophalangeal Syndrome Type I (TRPSI). Loss of this gene also causes a separate condition marked by cone-shaped extensions on some bones and specific facial features. TRPSII is caused by the functional loss of these two genes, and people with this disease have the clinical features of both of these conditions. It appears that most cases of TRPSII are the result of a “new” deletion in their DNA. In other words, there is a sporadic defect in either the egg or the sperm that occurs during that individual cell’s development and not in the parent’s entire body. As a result, the parents are unaffected but the child is affected since their entire body developed from the one normal sperm or egg and one that is missing a piece of the 8th chromosome. With this being said, there is also the possibility that any patient with this disorder may someday have children of their own, and therefore have a chance of passing the affected 8th chromosome on to their children.

Diagnosis

The diagnosis of TRPSII can be made by recognition of the associated clinical features and sending blood tests to a laboratory that performs genetic testing. Referral to a geneticist is recommended to help facilitate the diagnosis. X-rays may be performed for evaluation of exostoses and other associated skeletal anomalies.

Treatment

Unfortunately, there is no cure for this disease. The focus of treatment is primarily supportive and requires the multidisciplinary effort of a geneticist, orthopedic surgeon, physical therapist, and developmental specialist. Surgical intervention can be performed to correct some of the structural abnormalities for functional or cosmetic reasons. Counseling is also incredibly important with this diagnosis as patients may experience problems with self-esteem as they become old enough to realize that they are different from their peers. Genetic counseling is also important because patients have a 50% chance of passing the shortened chromosome 8 on to their children with each pregnancy.

Prognosis

This depends on the severity and diversity of the disease manifestations. If the individual does not demonstrate any symptoms other than the structural abnormalities of the face and bones, then there is no reduction in potential lifespan. Other more serious complications such as heart disease and/or respiratory problems could affect longevity.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Foundation for Ectodermal Dysplasias
Information about the various types of ectodermal dysplasias, family support programs and current research projects.

National Organization of Rare Disorders
Nice general reference for concise information.

Langer-Giedion Syndrome Association
FAQ’s about the disease and the story of a patient and how her and her family have dealt with this disease.

The Gaps Index
Information about all three of the types of Trichorhinophalangeal Syndrome with a number of helpful links for more information.

Little People of America (LPA)
Nonprofit organization that provides support and information

International Skeletal Dysplasia Registry
International registry that can help track and provide information for patients.

Google Search for Langer-Giedion Syndrome

References and Sources

OMIM www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150230 Shin HT, Chang MW, Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome), Dermatol Online J. 2001 Dec;7(2):8.