Question: What is (are) Ehlers-Danlos syndrome, kyphoscoliosis type ?
Answer: Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. EDS, kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene and is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.
Source: GARD

Question: Is Ehlers-Danlos syndrome, kyphoscoliosis type inherited ?
Answer: Is Ehlers-Danlos Syndrome, kyphoscoliotic type inherited? Ehlers-Danlos syndrome, kyphoscoliosis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Source: GARD

Question: How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ?
Answer: How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing for a change (mutation) in the PLOD1 gene
Source: GARD

Question: What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ?
Answer: How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because EDS, kyphoscoliosis type is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Regular follow-up may be recommended to check for development or progression of abnormalities of the eyes, cardiovascular system, and other parts of the body. GeneReview's Web site offers more specific information regarding the treatment and management of EDS, kyphoscoliosis type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Source: GARD