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.

Spondyloepiphyseal dysplasia tarda, an X-linked inherited disorder, is also a rare genetic disorder that primarily affects males and is characterized by short stature, kyphoscoliosis, and lumbar lordosis.

Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome and includes notching of the vertebral bodies, lacy appearance of the iliac crest, and small and malformed carpal bones.

Findings in both types may also include growth retardation, mildly course facial appearance, glaucoma, a prominent lower face, an abnormally short neck, pectus carinatum, kyphoscoliosis, platyspondyly, irregular epiphyses ends of synrrome long bonesbroad metaphyses segments underneath the epiphysesgenu valgum, and flat feet.

Information on current clinical trials is posted on the Internet at www. For instance, chest deformities, feeding difficulties and developmental delay usually are manifest by or before 18 months. The disease is caused by mutations of the DYM gene 18q Mutational analysis dyggve-me,chior-clausen DYM currently is available http: Spinal cord compression due to atlantoaxial instability occurs in both.

All studies receiving U. The protein, dymeclin, is a protein of amino syndeome, and is a protein involved in the Golgi apparatus Dimitrov et at. Last Edited October 1, Specialised Social Services Eurordis directory.

Bone maturation bone age is delayed Aglan et al. Microcephaly occurs in most individuals.

Dyggve Melchior Clausen syndrome – NORD (National Organization for Rare Disorders)

He emphasized prominence of the jaw and relative microcephaly. Changes in the composition of this collagen lead to abnormal skeletal growth in this and related disorders. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Management and treatment Management requires both a multidisciplinary approach and a long-term follow-up as the disease is progressive.

For information about clinical trials conducted in Europe, contact: Additionally, surgical techniques may be used to correct various other skeletal abnormalities such as subluxation or dislocation of the shoulder and hip joints.

Last Edited July 13, A number of different types of mutations, i. The gene encodes for a Rab protein and the mutation lead to a marked deficiency of this protein.

Morquio syndrome mucopolysaccharidosis type IV; MPS IV exists in two forms Morquio syndromes A and B and occurs because of a deficiency of the enzymes, N-acetylgalactosaminesulfatase and beta-galactosidase, respectively.

Rare Disease Database

Naffah J, Taleb N [Two further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression. Throughout childhood and as adults, thoracic kyphosis, scoliosis, lumbar lordosis, subluxation partial dislocation and frank dislocation of the hips, wide-based and waddling gait, genu valgum or varum, and restricted joint mobility appear and may worsen.

Adult height is severely reduced with height ranging from 82 cm to cm 32 in to 50 dyggve-melchior-clsusen. CC HPO: There has been some confusion about the inheritance of SMS because Yunis et al. Clinical description Clinically, DMC is characterized by progressive dwarfism with short trunk, protruding sternum, microcephaly and mental retardation of varying severity.

The Dyggve-Melchior-Clausen syndrome in adult siblings.

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

Affected individuals also have abnormalities affecting the eyes including myopia nearsightedness and, in approximately 50 percent of patients, retinal detachment. Thinning of the corpus callosum has also been reported Dupuis et al.

Am J Med Genet. Genetic counseling Transmission is autosomal recessive. Summary Epidemiology To date around cases have been recorded. The disease often progresses towards orthopedic complications which can include lumbar lordosis, thoracic kyphosis, hip luxation, deformation of the knees and spinal cord compression secondary to instability of the atlas-axis.

The cause of the disorder is a syndrpme in the TRPV4 gene. Both are classified as osteochondrodysplasias, specifically a spondyloepimetaphyseal dysplasia; this latter category dyggve-mepchior-clausen dysplasias consists of 28 separate disorders Lachmanpp. Eur J Pediatr ; Abnormal serum alphamacroglobulin in Dyggve-Melchior-Clausen syndrome.

When there is hypoplasia of the dyggve-mmelchior-clausen process and partial dislocation of the cervical vertebrae the segments of the spinal column at the top of the spinespinal fusion of these vertebrae or other means of vertebral stabilization normally is indicated.

Causes Dyggve-Melchior-Clausen syndrome is inherited as an autosomal recessive trait. OMIM is dyggve-melcbior-clausen for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.

Features in the following disorders can be similar to those found in DMC. Four tested children each had the same missense mutation in the RAB33B gene.

Spondylometaphyseal dysplasia, Kozlowski type, is a rare disorder characterized by short stature with a short neck and trunk, scoliosis or kyphoscoliosis, short hands and feet and limited joint movement associated with an abnormal gait. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.