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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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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.[1] 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).[1][2][3] Mild intellectual disabilities or learning disabilities have also been associated with this disorder.[4]
Last updated: 7/13/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome progeroid type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of adipose tissue 90%
Abnormality of the aortic valve 90%
Abnormality of the pulmonary valve 90%
Cryptorchidism 90%
Epicanthus 90%
Flexion contracture 90%
Gingivitis 90%
Muscular hypotonia 90%
Prematurely aged appearance 90%
Short stature 90%
Testicular torsion 90%
Thin skin 90%
Abnormal facial shape 50%
Abnormality of skin pigmentation 50%
Alopecia 50%
Aplasia/Hypoplasia of the abdominal wall musculature 50%
Atypical scarring of skin 50%
Reduced bone mineral density 50%
Skeletal dysplasia 50%
Telecanthus 50%
Joint hypermobility 7.5%
Abnormality of metabolism/homeostasis -
Aplasia/Hypoplasia of the earlobes -
Arachnodactyly -
Atrophic scars -
Autosomal recessive inheritance -
Bifid uvula -
Coxa valga -
Failure to thrive -
Joint laxity -
Long toe -
Macrocephaly -
Muscular hypotonia -
Narrow chest -
Narrow mouth -
Osteopenia -
Palmoplantar cutis gyrata -
Pes planus -
Proptosis -
Radioulnar synostosis -
Short clavicles -
Short stature -
Single transverse palmar crease -
Slender toe -
Small face -
Sparse scalp hair -
Wide nasal bridge -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. 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.
  2. 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.
  3. 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.
  4. 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.


Other Names for this Disease
  • Dermatan sulfate proteoglycan
  • Galactosyltransferase 1 deficiency
  • PDS, defective biosynthesis of
  • Proteodermatan sulfate, defective biosynthesis of
  • XGPT deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.