How common is Arthrochalasia EDS?
This form of EDS is very rare with only 27 cases reported in the literature to date. (3-5, 7-17) It is characterized by generalized joint hypermobility with recurrent dislocations of other joints including congenital bilateral hip dislocation, muscular hypotonia and mild dysmorphic features.
What is kEDS disease?
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive generalized connective tissue disorder characterized by hypotonia, early-onset kyphoscoliosis, and generalized joint hypermobility in association with skin fragility and ocular abnormality. Intelligence is normal.
How common is Kyphoscoliotic EDS?
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS), type VIA (MIM 225400) is a rare autosomal recessively inherited connective tissue disorder with a disease incidence of approximately 1;100,000 live births.
How is Vascular EDS diagnosed?
A diagnosis of vascular Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change ( mutation ) in the COL3A1 gene (usually) or the COL1A1 gene (rarely) can be ordered to confirm the diagnosis.
Is Ehlers-Danlos always genetic?
EDS can be inherited, but in some cases it occurs by chance in someone without a family history of the condition.
What is classic EDS?
Classical Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility.
How serious is vascular EDS?
Vascular Ehlers-Danlos syndrome (vEDS, VEDS, previously known as EDS type IV) is an uncommon, dominantly inherited, genetic connective tissue disorder. Vascular EDS is particularly serious because of the risk for spontaneous arterial or organ rupture.
When should you suspect vascular EDS?
vEDS should be suspected in the presence of the following major symptoms: Characteristic facial features (thin lips, narrow nose, undersized jaw, protruding eyes) Easy bruising. Thin skin with visible veins (especially on the chest or abdomen)