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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Dyggve-Melchior-Clausen syndrome DMC is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability.
Orphanet: Dyggve Melchior Clausen disease
Among the children from an uncle-niece marriage in Greenland, Dyggve et al. Last Edited May dybgve-melchior-clausen, Chondrodysplasia resulting from defects in intracellular vesicle traffic. The protein, dymeclin, is a protein of amino acids, and is a protein involved in the Golgi apparatus Dimitrov et at. Summary Epidemiology To date around cases have been recorded. Neurologic and behavioral complications in DMC may synfrome hyperactivity, autistic-like behavior, lack of speech and mild to severe intellectual disability with IQ ayndrome ranging from 25 to 65 Paupe et al.
Additional clinical features synndrome may also develop include dolichocephaly a long skullmicrocephaly a small headcoarse facial appearance, prognathism a protruding lower jaw. MRI findings in DMC include hypoplasia of the odontoid process, posterior disk protrusions in the lumbar vertebrae and the enlargement of the posterior common vertebral ligament Paupe et al.
The material is in no way intended syndfome replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
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. 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.
For instance, chest deformities, feeding difficulties and developmental delay usually are manifest by or before 18 months. Diagnosis A diagnosis of DMC syndrome may be suspected upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic clinical findings, e.
Specialised Social Services Eurordis directory. Amer J Med Genet. 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.
Affected individuals also have abnormalities affecting the eyes including myopia nearsightedness and, in approximately 50 percent of patients, retinal detachment. Occurrence of three siblings. Management requires both a multidisciplinary approach and a long-term follow-up as the disease is progressive.
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. The patients were mentally retarded, and the urine showed mucopolysaccharide.
Rare Disease Database
Spondyloepiphyseal dysplasia congenital is inherited as an autosomal dominant trait and is produced by a mutation in the collagen II COL2A1 gene. The cleft palate is present at birth but other characteristics may not appear for 2 or 3 years. Mutations in the same gene cause Smith-McCort dysplasia-1 Summary and related texts. However, only a few cases have been reported with this complication Naffah and Taleb A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.
The cause of the disorder is a mutation in the TRPV4 gene. The disease is caused by mutations of the DYM gene 18q Case report and review of the literature.
The gene now most commonly is referred to as DYM. Clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. For all other comments, please send your remarks via contact us. About News Events Contact. Radiographically, there is severe and generalized platyspondyly, widened and irregular metaphyses of the tubular bones, coxa vara, and delayed bone maturation. 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.
Causes Dyggve-Melchior-Clausen syndrome is inherited as an autosomal recessive trait. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Mental retardation and abnormal skeletal development Dyggve-Melchior-Clausen dysplasia due to mutations in a novel, evolutionarily conserved gene.
Further, the metacarpals bones in the middle of the hand and phalanges other bones in the fingers and toes are shortened. 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. All four of the evaluated children had normal cognitive function and head size.
This gene is involved in the production of type 2 collagen, a connective tissue protein, which is essential for the normal development of dyggve-mrlchior-clausen and other connective tissues. Health care resources for this disease Expert centres Diagnostic tests 11 Patient organisations 35 Orphan drug s 0.
CC ]. Dyggve-Melchior-Clausen syndrome is inherited as an autosomal recessive trait. 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 the long bonesbroad metaphyses segments underneath the epiphysesgenu valgum, and flat feet.
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. Microcephaly occurs in most individuals.