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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



What is Ehlers-Danlos syndrome progeroid type?

What are the signs and symptoms of Ehlers-Danlos syndrome progeroid type?

What causes Ehlers-Danlos syndrome progeroid type?

How is Ehlers-Danlos syndrome progeroid type inherited?

How might Ehlers-Danlos syndrome progeroid type be treated?


What is Ehlers-Danlos syndrome progeroid type?

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

What are the signs and symptoms of Ehlers-Danlos syndrome progeroid type?

Ehlers-Danlos syndrome refers to a group of connective tissue disorders characterized by stretchy or “kneadable” skin, double jointedness, and delayed healing of skin wounds. In addition to these traits, individuals with the progeroid type have thin curly hair, sparse eyebrows and eyelashes, loose elastic skin on the face, and may also have uneven facial features.[4] Although “progeroid” means "appearance similar to old age", individuals with progeroid Ehlers-Danlos syndrome do not actually have premature aging and are not expected to have a shortened life span. Other symptoms may include poor muscle tone, fragile bones from low bone mineral density, abnormal teeth, and infection of gums around the teeth. Children who are affected may have delayed growth, which can result in short stature as an adult (less than 152cm).[4][1][5] Mild intellectual disabilities or learning disabilities have also been associated with this disorder.[2]
Last updated: 7/13/2011

What causes Ehlers-Danlos syndrome progeroid type?

Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue.[5] Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type.
Last updated: 7/13/2011

How is Ehlers-Danlos syndrome progeroid type inherited?

Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition. One copy is inherited from each parent. If an individual has only one non-functional B4GALT7 gene (such as each parent), he or she is a "carrier". Carriers do not typically show any signs or symptoms of a recessive condition. When two carriers for a recessive condition have children, with each pregnancy there is a 25% (1 in 4) risk for the child to be affected, a 50%  (1 in 2) risk for the child to be a carrier (like each parent) and a 25% risk that the child will be unaffected and also not be a carrier. An individual with a recessive condition will generally have unaffected children, except in the rare circumstance where his or her partner is a carrier of a nonfunctional B4GALT7 gene.
Last updated: 7/13/2011

How might Ehlers-Danlos syndrome progeroid type be treated?

Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination. Affected individuals with joint pain might benefit from anti-inflammatory drugs. Lifestyle changes or precautions during exercise or intense physical activity may be advised to reduce the chance of accidents to the skin and bone.[3] It is recommended that affected individuals discuss treatment options with their healthcare provider.
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.
  4. Faiyaz-Ul-Haque M. et al. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am. J. Med. Genet.. 2004; 128(A):39-45.
  5. Quentin E, Gladen A, Roden L, Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: Galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc. Natl. Acad. Sci. 1990; 87:1342-1346.