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Ehlers-Danlos syndrome progeroid type


Other Names for this Disease
  • Dermatan sulfate proteoglycan
  • Galactosyltransferase 1 deficiency
  • PDS, defective biosynthesis of
  • Proteodermatan sulfate, defective biosynthesis of
  • XGPT deficiency
More Names
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Overview


Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other types of Ehlers-Danlos syndrome, individuals with the progeroid form have unusually flexible joints, loose elastic skin, and easy scarring. Features that are unique to this type include sparse scalp hair and eyebrows, and loose elastic skin on the face;[1] these features cause affected individuals to look older than their age. Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and delayed growth in affected children.[2] The progeroid type of Ehlers-Danlos syndrome is caused by mutations in the B4GALT7 gene and is inherited in an autosomal recessive pattern.[3]
Last updated: 7/13/2011

References

  1. Kresse H, Rosthoj S, Quentin E, Hollmann J, Glossl J, Okada S, Tonnesen T. Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am. J. Hum. Genet. 1987; 41:436-453.
  2. Hernandez A. et al. Ehlers-Danlos features with progeroid facies and mild mental retardation: further delineation of the syndrome. Clinical Genetics. 1986; 30:456-461.
  3. Wenstrup R, Paepe AD. Ehlers-Danlos Syndrome, Classic Type. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1244/#eds.Differential_Diagnosis. Accessed 7/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome progeroid type. This website is maintained by the National Library of Medicine.
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In Depth Information

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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ehlers-Danlos syndrome progeroid type. Click on the link to view a sample search on this topic.