Our prime focus is to educate the mass with the Genetic Disorders.
Ehlers-Danlos Syndrome, often referred to as “EDS” is a collection of heritable connective tissue disorders. Ehlers-Danlos Syndrome is known or thought to alter the biology of collagen in the body (the most abundant protein), which can lead to multi-systemic symptoms.
Each type has certain physical traits and with notable exception to the most common form, the hyper mobile type of Ehlers-Danlos Syndrome, most types have a known disease-causing gene.
Clinical manifestations of Ehlers-Danlos Syndrome are most often joint and skin related and may include:Joints
Joint hyper mobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyper extensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.Skin
Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
hypermobility that affects large (elbows, knees) and small (fingers, toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella and temporomandibular joint dislocate frequently. The skin involvement (smooth velvety skin with or without hyper extensibility) as well as bruising tendencies in the Hypermobility Type are present but quite variable in severity.
Marked skin hyper extensibility (stretchy) with widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity from mild to severe. The skin is smooth and velvety along with evidence of fragility and a tendency to bruise easily. Examples of tissue extensibility and fragility include hiatal hernia, anal pro lapse in childhood and cervical insufficiency. Hernias may be a post-operative complication. Scars are found mostly over pressure points such as the knees, elbows, forehead, and chin.Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus (flat foot) to name a few. Recurrent joint subluxations are common in the shoulder, patella and temporomandibular joints. Muscle hypotonic and delayed gross motor development may also be evident.
Vascular type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin, which is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals. These manifestations include large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities. Minor trauma can lead to extensive bruising.
Kyphoscoliosisis an autosomal recessive defect due to deficiency of an enzyme called t is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), thin conjunctiva with blue appearing sclera (eyes) and severe muscle weakness.
Arthohalasia Is an autosomal dominant defect which is very rare, with roughly 30 cases reported. It affects type I collegen. The arthrochalasia type was originally characterised by very loose joints and dislocations involving both hips at birth, but the diagnostic criteria has since been changed to allow diagnosis without the "hallmark" trait of hip dislocation at birth
Autosomal recessive. Very rare, with approximately 10 cases reported. The dermatosparaxis type is characterized by extremely fragile and sagging skin.
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