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.
|Published (Last):||9 December 2017|
|PDF File Size:||12.32 Mb|
|ePub File Size:||6.44 Mb|
|Price:||Free* [*Free Regsitration Required]|
This gene is involved in the production of type 2 collagen, a connective tissue protein, which is essential for the normal development of bones and other connective tissues. DYM is expressed in the majority of tissue and codes for synrome, a protein which interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown.
Genetic counseling may be of dyggve-melcjior-clausen for affected individuals, their parents and other family. However, one patient has been reported with cortical atrophy Aglan et al. A 15 year follow-up and a survey of the present clinical and chemical findings.
Analysis of a second, smaller family was also consistent with linkage to this region, producing a maximum combined 2-point lod score of 3.
Resources This disease entry is based upon medical information available through May 25, The data corroborated the impression that these 2 disorders are allelic and identified a gene necessary for normal skeletal development and brain function.
In addition to the skeletal abnormalities listed above, affected individuals can also develop a short neck and chest, pectus carinatum protruding breastboneflaring of the costal margins, kyphosis excessive backward curvature of the spinelumbar lordosis abnormal forward curvature of the spinescoliosis side-to-side curvature of the spineclaw-like hands, other joint contractures especially of the elbows and hips, genu valgum and talipes equinovarus clubbed feet Aglan et al.
Thus, Nakamura et al. The cause of the disorder also is produced from mutations in the TRPV4 gene.
OMIM Entry – # – DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q Radiographic findings in older children and adults are pathognomonic for the disorder Aglan at et.
Summary Epidemiology To date around cases have synfrome recorded. J Magnet Reson Imag. The clinical features of Morquio syndrome type B are usually fewer and milder than those associated with Morquio syndrome type A.
Like dymeclin, the Rab protein plays a critical role in Golgi transport. The vertebral body constriction abnormalities and lacy pattern of the iliac crests appear by years and syndgome persist until adulthood.
They detected 7 deleterious mutations, 4 of which were nonsense, 2 splice site, and 1 frameshift, among 10 affected families see, e. DMC appears to be produced mostly by premature truncation of dygve-melchior-clausen DYM product resulting in complete or nearly complete absence of dymeclin production from both DYM genes. Investigational Therapies Information on current clinical trials is posted on the Internet at www.
Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome and includes notching of the vertebral bodies, lacy appearance syndroem the iliac crest, and small and malformed carpal bones.
He emphasized prominence of the jaw and relative microcephaly. Some mutations in DYM appear to result in mis-localization and subsequent degradation of dymeclin with in the cell Dimitrov et al.
Clinically, DMC is characterized by progressive dwarfism with short trunk, protruding sternum, microcephaly and mental retardation of varying severity. Because of the of atlantoaxial instability found in DMC, cord compression is a concern. Dictionary of Medical Syndromes. Affected newborns dyggve-mflchior-clausen be small at birth, but otherwise appear normal. Naffah and Taleb described spinal compression from odontoid syncrome, as in the Morquio syndrome.
Radiographically, dyggve-melcbior-clausen is severe and generalized platyspondyly, widened and irregular metaphyses of the tubular bones, coxa vara, and delayed bone maturation. Check this box if you wish to receive a copy of your message. Electron microscopy demonstrated chondrocytes with dilated cisternae of rough endoplasmic reticulum RER containing fine granular or amorphous material similar to what had been reported in cases of DMC syndrome.
For information about syhdrome trials conducted in Europe, contact: Additional clinical features that may also develop include dolichocephaly a long skullmicrocephaly a small headcoarse facial appearance, prognathism a protruding lower jaw. Intellectual disability ranges from moderate to severe, and worsens with age Dgyyve et al.
In contrast to Morquio syndrome, individuals with DMC have normal hearing and teeth, lack cloudy corneas and lack the urinary mucopolysaccharides, but do have intellectual disability. Morphological and biochemical findings in cartilage growth zone. The lace-like appearance of the iliac crests, which is a characteristic radiologic sign, was found to be caused by bone tissue deposited in a wavy pattern at the osteochondral junction. With the exception of reduced length, affected individuals usually are normal at birth.
Unfortunately, it is not free to produce. In adult patients, the vertebral bodies become more rectangular syndtome the appositional bone which appears during adolescence becomes fused. The Dyggve-Melchior-Clausen syndrome in adult siblings.
KEGG DISEASE: Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia
In some individuals, hip replacement is required. Affected individuals also have abnormalities affecting the eyes including myopia nearsightedness and, in approximately 50 percent of patients, retinal detachment. Treatment of individuals with DMC syndrome is symptomatic and supportive.
When there is hypoplasia of the odontoid 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.
Subluxation of the hips is frequent. Secondary problems resulting from the skeletal abnormalities associated with DMC may include spinal compression, dislocated hips and restricted joint mobility. Causes Dyggve-Melchior-Clausen syndrome is inherited as an autosomal recessive trait. Other features are a narrow thorax, short ribs and kyphoscoliosis, the latter contributing to the short trunk typical for this condition. Comparisons may be useful for a differential diagnosis:. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.
Rare Disease Database
Years Published, About News Events Contact. The patients were mentally retarded, and the urine showed mucopolysaccharide. Pseudoachondroplasia is due to mutations of the cartilage oligomeric matrix protein COMP gene, and as such, is allelic to some cases of dyggve-melcgior-clausen epiphyseal dysplasia i.