DYGGVE-MELCHIOR-CLAUSEN SYNDROME PDF

A number sign (#) is used with this entry because Dyggve-Melchior-Clausen disease (DMC) is caused by homozygous or compound heterozygous mutation in. Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder Differential diagnoses include Smith-McCort syndrome (SMC; see this term), which. Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of spondylo-epi-metaphyseal dysplasia and.

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KEGG DISEASE: Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia

Only comments written in English can be processed. Dyggve-Melchior-Clausen disease DMC is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias see this term. Clinically, DMC is characterized by progressive dyggve-melchoir-clausen with short trunk, protruding sternum, microcephaly and mental retardation of varying severity.

The disease is caused by mutations of the DYM gene 18q The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for dymeclin, a protein which interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown.

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Diagnosis is based on radiological evidence revealing platyspondyly with double vertebral humps, epiphyseal and metaphyseal dysplasia and scalloped iliac crests. Differential diagnoses include Smith-McCort syndrome SMC; see this termwhich presents with the same clinical and dyggve-melchior-causen features as DMC but without intellectual deficiency, and Morquio disease or mucopolysaccharidosis type 4, MPS IV; see this termwhich is clinically similar but has specific radiological and enzymatic signs.

Management requires both a multidisciplinary approach and a long-term follow-up as the disease is progressive. The disease syndfome progresses towards orthopedic complications which can include lumbar lordosis, thoracic kyphosis, hip luxation, deformation of the dyggve-mellchior-clausen and spinal cord compression secondary to instability of the atlas-axis. Other search option s Alphabetical dyggve-melchior-clauseh.

Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Dyggve-Melchior-Clausen disease DMC dyggv-emelchior-clausen a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias see this term. Summary Epidemiology To date around cases have been recorded. Clinical description Clinically, DMC is characterized by progressive dwarfism with short trunk, protruding sternum, microcephaly and mental retardation of varying severity.

Etiology The disease is caused by mutations of the DYM gene 18q Diagnostic methods Diagnosis is based on radiological evidence revealing platyspondyly with double vertebral humps, epiphyseal and metaphyseal dysplasia and scalloped iliac crests. Differential diagnosis Differential diagnoses include Smith-McCort syndrome SMC; see this termwhich presents with the same clinical and radiological features as DMC but without intellectual deficiency, and Morquio disease or mucopolysaccharidosis type 4, MPS IV; see this termwhich is clinically similar but has specific radiological and enzymatic signs.

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Rare Disease Database

Genetic counseling Transmission is autosomal recessive. Management and treatment Management requires both a multidisciplinary approach and a long-term follow-up as the disease is progressive. Prognosis The disease often progresses towards orthopedic complications which can include lumbar lordosis, thoracic kyphosis, hip luxation, deformation of the knees and dyggve-mlechior-clausen cord compression secondary to instability of the atlas-axis.

Additional information Further information dyggve-melchior-clausne this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 3.

Health care resources for this disease Expert centres Diagnostic tests 11 Patient organisations 35 Orphan drug s 0. Specialised Social Services Eurordis directory.

The documents contained in this web site are presented for dyggce-melchior-clausen 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.