True or False
A symptom of Ehlers-Danlos syndrome is joint hypermobility. (T/F)
True
How many main types of collagen are there?
5
What scale is most commonly used to assess joint hypermobility in Ehlers-Danlos syndrome?
Beighton Scale
One of the major diagnostic criteria for Ehlers-Danlos syndrome is hypertrophic scarring. (T/F)
False
What type of collagen is found in the cornea and also helps with embryonic developement?
Type 5 collagen
How many major criteria are used to determine a diagnosis of Ehlers-Danlos syndrome?
There are 12 different sub-types of Ehlers-Danlos syndrome. (T/F)
False
What type of inheritance pattern does Ehlers-Danlos classical type have?
Autosomal Dominant
Name 3 minor criteria for diagnosing classical type Ehlers-Danlos syndrome.
(1)Easy bruising.
(2)Soft, doughy skin.
(3)Skin fragility (or traumatic splitting).
(4)Molluscoid pseudotumours.
(5)Subcutaneous spheroids.
(6)Hernia (or history thereof).
(7)Epicanthal folds.
(8)Complications of joint hypermobility (e.g., sprains, dislocation/subluxation, pain, pes planus).
(9)Family history of a first degree relative who meets clinical criteria
Type 1 collagen is the most abundant in the human body. Found in around 90% of the bodies total collagen. (T/F)
True
Up to what % of gene mutations are shown to be "De novo" in Ehlers-Danlos classical syndrome?
50%
Who was credited with being the first to describe hypermobility joint syndrome in 400 BC
Hippocrates
Brittle Cornea Syndrome (BCS) is one of the sub-types of Ehlers-Danlos Syndome. (T/F)
True
What gene/genes are most commonly associated with Ehlers-Danlos classical syndrome?
COL5A1, COL5A2
Who were the two physicians that Ehlers-Danlos syndrome was named after?
Edvard Ehlers & Henri-Alexandre-Danlos