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197 Possible Causes for Absent-Mild Skin Hyperextensibility, Skin Hyperlaxity

  • Ehlers-Danlos Syndrome Type 4

    […] and joint hyperlaxity.[nature.com] […] membrane-bound zinc transporter SLC39A13. 37 The RIN2-syndrome is characterized by severe progressive scoliosis, progressive facial coarsening, gingival hypertrophy, sparse hair, and skin[nature.com]

  • Autosomal Dominant Prognathism

    , NAILS, HAIR: [Skin]; Fragile skin; Easy bruisability; Cigarette-paper scars; Atrophic skin over ears; Prominent venous markings; Absent-mild skin hyperextensibility; Skin[findzebra.com] Hyperlaxity is more pronounced in younger patients and in females. Patients may also have soft or mildly hyperextensible skin, easy bruising and bleeding disorders.[findzebra.com] […] pregnancy; Uterine prolapse; [Bladder]; Bladder prolapse SKELETAL: [Hands]; Hypermobility of distal interphalangeal joints; Acroosteolysis; [Feet]; Clubfoot; Acroosteolysis SKIN[findzebra.com]

  • Ehlers-Danlos Syndrome Type 2

    Ecchymoses were absent and the tongue was not hyperextensible (negative Gorlin’s sign).[mdedge.com] hyperlaxity due to vitamin K-dependent coagulation factor deficiency Brittle cornea syndrome Buschke-Ollendorff syndrome CREST syndrome Centripetalis recessive dystrophic[se-atlas.de] hyperlaxity of her joints and hypotonia.[f1000research.com]

  • Ehlers-Danlos Syndrome with Periventricular Heterotopia

    , NAILS, HAIR: [Skin]; Fragile skin; Easy bruisability; Cigarette-paper scars; Atrophic skin over ears; Prominent venous markings; Absent-mild skin hyperextensibility; Skin[findzebra.com] EHLERS-DANLOS syndrome (EDS) represents a group of connective tissue disorders that are characterized by excessive skin elasticity and ligamentary hyperlaxity.[jamanetwork.com] Clinical manifestationsEDS displays skin hyperextensibility and fragility, soft velvetyskin, delayed wound healing atrophic scarring, joints hyperlaxity,dislocations, pain[docslide.com.br]

  • Pulmonary Blastoma

    , NAILS, HAIR: [Skin]; Fragile skin; Easy bruisability; Cigarette-paper scars; Atrophic skin over ears; Prominent venous markings; Absent-mild skin hyperextensibility; Skin[findzebra.com] […] pregnancy; Uterine prolapse; [Bladder]; Bladder prolapse SKELETAL: [Hands]; Hypermobility of distal interphalangeal joints; Acroosteolysis; [Feet]; Clubfoot; Acroosteolysis SKIN[findzebra.com]

    Missing: Skin Hyperlaxity
  • Dilated Cardiomyopathy 1R

    […] joint hyperlaxity), microcephaly and features of Ehlers-Danlos syndrome.[rarediseases.org] Affected individual can develop a prematurely aged appearance, fine curly hair, sparse eyebrows, loose but elastic (hyperelastic) skin, abnormally loose or mobile joints ([rarediseases.org]

    Missing: Absent-Mild Skin Hyperextensibility
  • Ruptured Cerebral Aneurysm

    […] of the ligaments and skin [ 1 ].[bmcneurol.biomedcentral.com] […] abnormalities in type 1 collagen, and is characterized by bone fragility and other extraskeletal features, including hearing loss, blue sclerae, dentinongenesis imperfecta and hyperlaxity[bmcneurol.biomedcentral.com]

    Missing: Absent-Mild Skin Hyperextensibility
  • Cutis Laxa

    This is a group of clinically and genetically heterogeneous conditions, characterized by skin hyperlaxicity with abnormally stretchy and loose skin in the presence of numerous[omicsonline.org] Deficiency of P5CS was first described in two Algerian siblings with progressive neurodegeneration, joint laxity, skin hyperlaxity and bilateral subcapsular cataracts.[link.springer.com] Joint issues: hyperlaxity, contractures Skin findings: cutis laxa, sagging, wrinkly, thin abnormal or atrophic scars, poor wound healing, spontaneous bruising Ocular findings[unmc.edu]

    Missing: Absent-Mild Skin Hyperextensibility
  • Hereditary Hyperekplexia

    , mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.[amp.pharm.mssm.edu] Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity[amp.pharm.mssm.edu]

    Missing: Absent-Mild Skin Hyperextensibility
  • Arterial Tortuosity Syndrome

    […] and joint abnormalities, including hyperextensibility or hyperlaxity of the skin, joint laxity or contractures, and inguinal hernias, reminiscent of other connective tissue[jmg.bmj.com] Additional clinical features present in some of these patients were hyperlax skin and joints, and/or dilation, aneurysms, and stenosis of the pulmonary arteries and ascending[jmg.bmj.com] […] syndrome (ATS; MIM 208 050) is a rare connective tissue disorder characterised by generalised tortuosity, elongation, stenosis, and aneurysms of the major arteries. 1– 9 Skin[jmg.bmj.com]

    Missing: Absent-Mild Skin Hyperextensibility

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