Dyggve-Melchior-Clausen syndrome

A rare, autosomal recessive, progressive genetic condition characterized by short stature, abnormal skeletal development, MICROCEPHALY; and INTELLECTUAL DISABILITY. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Mutations in the DYM gene have been identified. OMIM: 223800

Also Known As:

Networked: 11 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
2.	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
3.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
4.	Chondrodysplasia Punctata (Stippled Epiphyses)
5.	Dyssegmental dysplasia

Experts

1.	Csaba, Zsolt: 2 articles (05/2015 - 02/2009)
2.	El Ghouzzi, Vincent: 2 articles (05/2015 - 02/2009)
3.	Gressens, Pierre: 2 articles (05/2015 - 02/2009)
4.	Perez, Franck: 2 articles (05/2015 - 02/2009)
5.	Khokhar, Aditi: 1 article (01/2022)
6.	Pletcher, Beth A: 1 article (01/2022)
7.	Ruane, Claire: 1 article (01/2022)
8.	Umans, Rachel: 1 article (01/2022)
9.	Upadhyay, Ravi: 1 article (01/2022)
10.	Wong, Kristin: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dyggve-Melchior-Clausen syndrome:

1.	Proteoglycans (Proteoglycan)IBA 08/01/1994 - "Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrome, dyssegmental dysplasia, Ehlers-Danlos syndrome types I and III, Ellis van Creveld syndrome and thanatophoric dysplasia, though no additional sequence variations were detected." 08/15/1984 - "It had been suggested that Dyggve-Melchior-Clausen syndrome may be due to the deficiency of a specific sulfatase and/or a protease involved in proteoglycan degradation. "
2.	Sulfates (Sulfates, Inorganic)IBA 08/15/1984 - "Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate." 02/01/1975 - "Cytological and biochemical data, notably a normal sulfate incorporation into acid mucopolysaccharides of cultured fibroblasts, indicate that the Dyggve-Melchior-Clausen syndrome is not a mucopolysaccharidosis as has been previously suggested."
3.	Proteins (Proteins, Gene)FDA Link 02/01/2011 - "Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development." 05/15/2015 - "Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability. "
4.	GlycosaminoglycansIBA 01/01/1976 - "A six year old girl is presented, who shows a short trunk dwarfism, is mentally retarded, lacks excretion of mucopolysaccharides in urine and has very severe generalized oseous alterations which corresponds to the characteristics of the Dyggve-Melchior-Clausen syndrome. " 02/01/1975 - "Cytological and biochemical data, notably a normal sulfate incorporation into acid mucopolysaccharides of cultured fibroblasts, indicate that the Dyggve-Melchior-Clausen syndrome is not a mucopolysaccharidosis as has been previously suggested."
5.	Pregnancy-Associated alpha 2-Macroglobulins (alpha 2 Macroglobulin)IBA 01/01/1980 - "Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome." 01/01/1980 - "The high levels of alpha 2-macroglobulin found in the serum of three patients suffering from Dyggve-Melchior-Clausen syndrome, an autosomal recessive metabolic disorder, resembling mucopolysaccharidoses, have been further characterised by crossed immunoelectrophoresis. "
6.	SulfatasesIBA 08/15/1984 - "It had been suggested that Dyggve-Melchior-Clausen syndrome may be due to the deficiency of a specific sulfatase and/or a protease involved in proteoglycan degradation. "
7.	Growth Hormone (Somatotropin)IBA 01/01/2022 - "A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome."
8.	Peptide Hydrolases (Proteases)FDA Link 08/15/1984 - "It had been suggested that Dyggve-Melchior-Clausen syndrome may be due to the deficiency of a specific sulfatase and/or a protease involved in proteoglycan degradation. "
9.	Membrane Proteins (Integral Membrane Proteins)IBA 02/01/2009 - "The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus."
10.	Heparitin Sulfate (Heparan Sulfate)IBA 08/15/1984 - "Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate."