Hi I myself and two of my 4 children have what is called Ehlers-Danlos Syndrome. It is a challange raising children with rare conditions let alone have it youself. My new baby who is 10 months is free of this condition it was a 50/50 chance it can be passed on.
I will explain the gist of it below but you are more than welcome to visit my Homepage
for more details and pictures.
Please Note I am still working on site.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders, which cause articular (joint) hypermobility, shin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their signs and symptoms. Each type of EDS is a distinct disorder that "runs true in a family". This means, for example, that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
Individuals with EDS have a defect in their connective tissue, which is a tissue that provides support to body parts such as skin, muscles and ligaments. Abnormal collagen, which is a protein that adds strength and elasticity to connective tissue, causes the unstable joints and fragile skin seen in individuals with EDS. It is estimated that about 1 in 5000 to 1 in 10,000 individuals are born with EDS.
EDS More Defined:
Ehlers-Danlos Syndromes are inherited in the genes. As a rare connective tissue disorder characterized by defects of the major structural protein in the bodies collagen. Collagen is a tough fibrous protein that plays an essential role
"holding together" strengthening and providing elasticity to bodily cells and tissues. The different categories are based on genetics into different types with many differences between patients in any given type.
The diagnosis of EDS depends upon the clinical findings. Many people do not fit exactly into one of the specific types of EDS. Due to defects of collagen primary EDS symptoms and findings include:
Though there are a variety of Ehlers-Danlos Syndromes all types share common features such as easy bruising (may be severe) clotting abnormalities, joints are abnormally flexible, loose/unstable joints (articular hypermobile) which are prone to frequent sudden dislocation and or sublexation resulting in pain and possible emergency. Hyperextensible joints(move beyond normal range) congenital hip dislocation, abnormalities of the ligaments. Sprains and strain occur frequently.
Abnormal Loose Skin.(laxity/Hyperextensible), weakness of tissues, severe scaring, slow/poor wound healing, delayed/poor tissue healing, development of molluscoid pseudo tumors, Flat footed, club feet (seen in vascular type
Musculoskelatal Pain.(early onset debilitating) Poor muscle tone, ambulation is impaired- hand strength and upper extremities dysfunction, back and neck pain, spinal deformity scoliosis (more common in KyphoScolios Type) but not limited to such.
Abnormalities to organs fragility to membranes.heart mitral valve regurgitation/prolapse, (arterial ruptures varies in types) Bowel/Intestinal Trouble, (Perforation/Ruptures varies in types) Constipation, Gastrointestinal function is poor, Retinal trouble, Uterine perforation varies in types.
Their are 6 Major Types of EDS; We have been diagnosed with Classical Type which consists of....
Marked Joint hypermobility, joint dislocation/sublexations, hip dislocation. Joint instability can lead to sprains and strains. Skin hyperextensibility (laxity), and fragility. The smooth velvety skin is fragile and tears or bruises easily. Wide atrophic scars, Cigarette paper scars, Scoliosis is common, poor eyesight
(nearsightedness is common) In some cases, muscle hypotonia (floppiness) Classical type EDS is caused by abnormalities in collagen type V. This Classical type is inherited as an autosomal dominant genetic trait.)
Blessing to all the moms and dads out their with children that have special needs