Ehlers Danlos Syndrome
EHLERS DANLOS SYNDROME
WHAT IS THE EHLERS DANLOS SYNDROME?
• EDS is a group of rare inherited disorders
• The disorder weakens connective tissues
• Connective tissues support joints, blood vessels, skin and other organs
• There are 6 major types of EDS
• Different types are classified according to appearance of signs and symptoms.
– Hypermobility
– Classical
– Vascular
– Kyphoscoliosis
– Arthrochalasis
– Dermatosparaxis
WHAT ARE THE SPECIFIC SYMPTOMS?
• Overly flexible joints
• Hypermobility in the hands, fingers and toes
• Loose joints that are prone to sprains, dislocations and doublejointedness
• Wounds that do not heal easily and later leave abnormal scarring
• Muscle weakness
• Joint pain
• Stretchy skin
• Fragile skin
• Small and fragile blood vessels
• Fatty lumps at pressure points
• Eye problems
• Flat feet
WHAT IS THE TREATMENT?
• Protecting joints
• Preventing injuries
• Medications for collagen, pain and maintaining blood pressure • Exercise
• Physical therapy
• Surgery and other procedures
CAN THE DISORDER BE CURED?
• There's no cure for the Ehlers Danlos
Syndrome
• EDS is a genetic disorder that is present in
EVERY cell in the individual
• EDS isn’t a serious disorder
• There isn’t enough funding to search for a cure HOW IS THE DISORDER INHERITED?
• Autosomal dominance
– When ONE parent has EDS and the other parent doesn’t
– Offspring has 50% of not inheriting EDS and 50% of inheriting
EDS regardless of gender
• Autosomal recessive
– When BOTH parents are carriers of EDS
– Offspring has 25% it will inherit the disorder, 50% that it will become a carrier and 25% it will not inherit the disorder
• X-linked recessive
– When a women carries an EDS genes = 50% of her sons will inherit EDS and 50% her daughters will be carriers
– When a man carries an EDS gene = ALL his daughters will be gene carriers and NONE of his sons will be gene carries nor be effected
HOW COMMON IS THE DISORDER?
• Combined occurrence of all EDS types are approximately
WHAT IS THE EHLERS DANLOS SYNDROME?
• EDS is a group of rare inherited disorders
• The disorder weakens connective tissues
• Connective tissues support joints, blood vessels, skin and other organs
• There are 6 major types of EDS
• Different types are classified according to appearance of signs and symptoms.
– Hypermobility
– Classical
– Vascular
– Kyphoscoliosis
– Arthrochalasis
– Dermatosparaxis
WHAT ARE THE SPECIFIC SYMPTOMS?
• Overly flexible joints
• Hypermobility in the hands, fingers and toes
• Loose joints that are prone to sprains, dislocations and doublejointedness
• Wounds that do not heal easily and later leave abnormal scarring
• Muscle weakness
• Joint pain
• Stretchy skin
• Fragile skin
• Small and fragile blood vessels
• Fatty lumps at pressure points
• Eye problems
• Flat feet
WHAT IS THE TREATMENT?
• Protecting joints
• Preventing injuries
• Medications for collagen, pain and maintaining blood pressure • Exercise
• Physical therapy
• Surgery and other procedures
CAN THE DISORDER BE CURED?
• There's no cure for the Ehlers Danlos
Syndrome
• EDS is a genetic disorder that is present in
EVERY cell in the individual
• EDS isn’t a serious disorder
• There isn’t enough funding to search for a cure HOW IS THE DISORDER INHERITED?
• Autosomal dominance
– When ONE parent has EDS and the other parent doesn’t
– Offspring has 50% of not inheriting EDS and 50% of inheriting
EDS regardless of gender
• Autosomal recessive
– When BOTH parents are carriers of EDS
– Offspring has 25% it will inherit the disorder, 50% that it will become a carrier and 25% it will not inherit the disorder
• X-linked recessive
– When a women carries an EDS genes = 50% of her sons will inherit EDS and 50% her daughters will be carriers
– When a man carries an EDS gene = ALL his daughters will be gene carriers and NONE of his sons will be gene carries nor be effected
HOW COMMON IS THE DISORDER?
• Combined occurrence of all EDS types are approximately