Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by defects in the protein collagen.
Symptoms of the dermatosparaxis type typically arise in infancy and include soft, doughy skin that is extremely fragile, saggy, redundant skin, hernias, and mild to severe joint mobility. Additionally, infants and children with hypermobility often have weak muscle tone which can delay the development of motor skills including sitting, standing, and walking. There is no cure available for this disorder, however treatments including physiotherapy and surgery are often helpful at reducing symptoms.
This condition is caused by pathogenic (disease-causing) variants in the ADAMTS2 gene. Ehlers-Danlos syndrome, dermatosparaxis type, exhibits autosomal recessive inheritance, meaning both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a carrier frequency of 1 in 187. Carriers do not typically show any signs or symptoms of the condition.
Resources:
Genetic and Rare Diseases Information Center
Revised October 2022
