Topic: Ehlers-Danlos syndrome, kyphoscoliosis type
Question: What are the symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type ?
Answer: What are the signs and symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type vary but may include: Hyperextensible skin that is fragile and bruises easily Joint hypermobility that leads to frequent dislocations and subluxations (partial dislocations) Severe hypotonia at birth Progressive kyphoscoliosis (kyphosis and scoliosis), present at birth or within the first year of life Scleral fragility Abnormal wound healing "Marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum) Fragile arteries that are prone to rupture Delayed motor development Unusually small cornia Osteopenia (low bone density) Congenital clubfoot Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body) The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, kyphoscoliosis type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the mitral valve 90% Aortic dissection 90% Arterial dissection 90% Atypical scarring of skin 90% Gait disturbance 90% Joint dislocation 90% Joint hypermobility 90% Kyphosis 90% Muscular hypotonia 90% Myopia 90% Scoliosis 90% Abnormality of coagulation 50% Abnormality of the hip bone 50% Decreased corneal thickness 50% Glaucoma 50% Hernia of the abdominal wall 50% Hyperextensible skin 50% Microcornea 50% Retinal detachment 50% Retinopathy 50% Subcutaneous hemorrhage 50% Visual impairment 50% Corneal dystrophy 7.5% Talipes 7.5% Arachnodactyly - Autosomal recessive inheritance - Bladder diverticulum - Blindness - Blue sclerae - Bruising susceptibility - Congestive heart failure - Decreased fetal movement - Decreased pulmonary function - Dental crowding - Depressed nasal bridge - Disproportionate tall stature - Epicanthus - Gastrointestinal hemorrhage - Inguinal hernia - Joint laxity - Keratoconus - Molluscoid pseudotumors - Motor delay - Osteoporosis - Palmoplantar cutis laxa - Pes planus - Premature rupture of membranes - Progressive congenital scoliosis - Recurrent pneumonia - Respiratory insufficiency - Soft skin - Talipes equinovarus - Tall stature - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)