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Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 15/04/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 22/04/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 29/04/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 06/05/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 13/05/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 20/05/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 27/05/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 03/06/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 10/06/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 17/06/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 24/06/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 01/07/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 08/07/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 15/07/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 22/07/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 29/07/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 05/08/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 12/08/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 19/08/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 26/08/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 02/09/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 09/09/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 16/09/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 23/09/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 30/09/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 07/10/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 14/10/2007

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Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 21/10/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 28/10/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 04/11/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 18/11/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 25/11/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 02/12/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 09/12/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 16/12/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 23/12/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 30/12/2007

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 06/01/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 13/01/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 20/01/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 27/01/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 03/02/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 10/02/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 17/02/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 24/02/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 02/03/2008

Orphanet database access

Orphanet database access

Melorheostosis Direct access to data Summary Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Until very recently, the etiology of melorheostosis was unknown, but it has now been established that melorheostosis is due to a loss-of-function mutation in the LEMD3 gene (also called MAN1), which encodes an inner nuclear membrane protein. On plain radiographs, melorheostosis presents as cortical hyperostosis with a thickening that resembles flowing candle wax. Soft tissue calcification and even ossification may rarely be seen. In some rare and complicated cases, corrective surgery may be required. *Authors: Profs. M.E. Azouz and A. Greenspan (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf Clinical signs Restricted joint mobility Skeletal anomalies Amyotrophy/muscle agenesis Lower limb asymmetry/hemihypertrophy Upper limb asymmetry Haemangioma-capillary Thick skin Update : 09/03/2008

Orphanet database access