Question: What is (are) Ehlers-Danlos syndrome, dermatosparaxis type ?
Answer: Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
Source: GARD

Question: What are the symptoms of Ehlers-Danlos syndrome, dermatosparaxis type ?
Answer: What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature Delayed closure of the fontanelles Short fingers Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia Rupture of the bladder or diaphragm Mild to severe joint hypermobility The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, dermatosparaxis 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 coagulation 90% Abnormality of the hip bone 90% Atypical scarring of skin 90% Hyperextensible skin 90% Joint dislocation 90% Limitation of joint mobility 90% Muscular hypotonia 90% Neurological speech impairment 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Umbilical hernia 90% Depressed nasal bridge 50% Epicanthus 50% Hypertelorism 50% Scoliosis 50% Abnormality of primary molar morphology - Autosomal recessive inheritance - Blepharochalasis - Blue sclerae - Bruising susceptibility - Delayed closure of the anterior fontanelle - Fragile skin - Frontal open bite - Gingival bleeding - Gingival hyperkeratosis - Gingival overgrowth - Hirsutism - Hypodontia - Inguinal hernia - Joint laxity - Micromelia - Motor delay - Myopia - Osteopenia - Premature birth - Premature rupture of membranes - Recurrent mandibular subluxations - Redundant skin - Short phalanx of finger - Short toe - Soft, doughy skin - Spontaneous neonatal pneumothorax - Thick vermilion border - Wide anterior fontanel - 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

Question: How to diagnose Ehlers-Danlos syndrome, dermatosparaxis type ?
Answer: How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the diagnosis.
Source: GARD