Ehlers-Danlos syndrome progeroid type
Type of disease: Rare conditions
Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.
Ehlers-Danlos syndrome progeroid type (EDS-PF, EDSP1 and/or EDSP2) is a very rare form of EDS. “Progeroid” means “appearance similar to old age”, which is the symptom that this EDS type is best known for. Other common signs are thin & sparse hair, an overly large head at infancy (macrocephaly), loose but elastic skin on the face, loose joints that have an abnormal range of motion (joint laxity and hypermobility), low weight for age with an inability to gain weight (known as “failure to thrive”), short stature from delayed growth, and slow/ abnormal wound healing that results in wide “cigarette paper” (atrophic) scars. Other symptoms may include low muscle tone (hypotonia), fragile bones from low bone mineral density (osteopenia), gum infections around the teeth, abnormal teeth, and uneven facial features. Some mild intellectual or learning disabilities have also been seen with the condition. Like with other types of EDS, heart and artery complications can occur.
There is no cure for EDS-PF; it is a life-long condition that requires close monitoring. Management includes physical therapy, occupational therapy, and the use of orthopedic instruments such as braces.
The progeroid form of EDS is passed through families in an autosomal recessive manner, meaning that a person needs to inherit two copies of the defective gene in order to develop the disorder. If you or your child has been diagnosed with EDS-PF, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also available for more resources and information.