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
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. 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). Mild intellectual disabilities or learning disabilities have also been associated with this disorder.
Last updated: 7/13/2011
- 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.
- 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.
- 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.
- 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.