Langer-Giedion Syndrome: Symptoms And Description
Langer-Giedion Syndrome, also known as Trichorhinophalangeal Syndrome type II, is a rare contiguous gene disorder caused by the deletion or mutation of functional copies of the TRPS1 (604386) and EXT1 (608177) genes located on chromosome 8. A contiguous gene syndrome is seen when deletions take place two or more genes that are located next to one another on a chromosome. In this case the genes, TRPS1 & EXT1 are localized to the 8q24.11-8q24.13 region of chromosome 8.
Langer-Giedion syndrome is characterized by bone abnormalities and unique facial features. The patient presents with multiple non-cancerous bone tumors known as exostoses. These cause pain and movement of the joints are restricted. In addition, the exostoses exert pressure on underlying nerves, blood vessels and the spinal cord. The patients also exhibit short stature and epiphyses. The most unique characteristics in patients suffering from Langer-Giedion Syndrome is scant hair growth on the scalp, a bulbous nose, low-placed, protruding ears, an elongated upper lip, winged scapulae, the presence of exostoses, loose skin, and some degree of mental disability. There maybe loss of hearing and delayed speech development also.
What Causes Langer-Giedion Syndrome: The Genetic Aspects
Langer-Giedion Syndrome is a true contiguous gene deletion syndrome caused by deletions in both the TRPS and EXT1 genes. The lack of a functional EXT1 gene causes the bone exostoses, bone anomalies and facial abnormalities which are seen in patients. The EXT1 gene and the TRPS1 gene are both absent in patients and research suggests that other genes located in the 8q24.11-8q24.13 region of chromosome 8 may be deleted or non-functional also. Longer deletions in this region are characterized by mental retardation and the other variations in symptoms mentioned above.
Langer-Giedion syndrome is not normally genetically inherited. It happens due to random occurrences during the creation of either eggs or sperm in any parent of an affected person. There is no previous history of the syndrome in the family line. In rare cases, individuals inherit the chromosomal deletion from a parent who suffers from this problem. Langer-Giedion syndrome is an autosomal dominant condition since just having one copy of the mutated chromosome 8 in each cell is enough to have the disease.
Diagnosis, Treatment And Patient Management
Langer-Giedion syndrome is generally diagnosed at birth due to the bulbous nose, the epiphyses and exostoses. Diagnosis is confirmed using genetic tests like chromosome analysis which will demonstrate abnormalities in chromosome 8 and X-rays to show bone abnormalities. Early diagnosis is vital so that the family can get genetic counseling and make informed decisions related to developmental or growth delays, learning, auditory, orthopedic and cosmetic problems. Prenatal diagnosis has not been done for this condition before but genetic testing of parents can help in determining the risks of re-occurrence in subsequent pregnancies.
The treatment of Langer-Giedion syndrome is customized to suit patient needs since there is no cure and the individual symptoms are so varied. Most of the patient management procedures are aimed at reducing the severity of the symptoms and their subsequent effects. The bony exostoses have to be removed by surgery if they are pressurizing nerves and blood vessels. Differences in joint length can be compensated by the use of corrective shoes may be helpful. In patients with severe degrees of spinal and skeletal distortion, the use of suitable orthopedic devices is necessary. Plastic surgery is an option for correction of distorted facial features.
Psychological disturbances may result from the physical abnormalities. Changes like sarcomatous alterations in exostoses, hematometra, endocrine issues such as diabetes mellitus and hypothyroidism, avascular necrosis of femoral head and low reproductive capacity as age increases, need a multi-disciplinary treatment strategy. Vocational therapy may be useful if the degree of mental disability is not so pronounced, as this might provide a livelihood in adulthood.
The prognosis for life-span is long but intellectual disability, the lack of symmetry in the limbs causes pain and educational issues later in life. There are many patient support groups and counseling facilities in various places, which can be useful. This information can be found through your local healthcare provider. Diagnosis at an early stage prepares the family on what to expect from their child with Langer-Giedion syndrome at different ages and how to treat or manage the symptoms.
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