Small Poster 2 (NORD 2013)

Page 1

CLASSICAL: SKIN HYPEREXTENSIBILITY • WIDENED ATROPHIC SCARS • JOINT HYPERMOBILITY • smooth velvety skin molluscoid pseudotumors • subcutaneous spheroids • sprains, dislocations/subluxations, pes planus • muscle hypotonia, delayed gross motor development • easy bruising • tissue fragility, hiatal hernia, anal prolapse, cervical insufficiency surgical complications. HYPERMOBILITY: SKIN INVOLVEMENT (hyperextensibility and/or smooth, velvety skin) GENERALIZED JOINT HYPERMOBILITY • recurring joint dislocations • chronic joint/limb pain. VASCULAR: THIN TRANSLUCENT SKIN • ARTERIAL/INTESTINAL/UTERINE FRAGILITY OR RUPTURE •EXTENSIVE BRUISING • CHARACTERISTIC FACIAL APPEARANCE • acrogeria • hypermobility of small joints • tendon & muscle rupture • clubfoot • early onset varicose veins • arteriovenous, carotid-cavernous sinus fistula • pneumothorax/ pneumohemothorax • gingival recession sudden death in close relative(s). KYPHOSCOLIOSIS: GENERALIZED JOINT LAXITY • SEVERE MUSCLE HYPOTONIA AT BIRTH • SCOLIOSIS AT BIRTH, PROGRESSIVE • SCLERAL FRAGILITY AND RUPTURE OF THE OCULAR GLOBE • tissue fragility/ atrophic scars • easy bruising • arterial rupture • Marfanoid habitus • microcornea • radiologically considerable osteopenia. ARTHROCHALASIA: SEVERE GENERALIZED JOINT HYPERMOBILITY W/ RECURRENT SUBLUXATIONS CONGENITAL BILATERAL HIP DISLOCATION • skin hyperextensibility • tissue fragility/atrophic scars • easy bruising muscle hypotonia • kyphoscoliosis • radiologically mild osteopenia . DERMATOSPARAXIS: SEVERE SKIN FRAGILITY SAGGING, REDUNDANT SKIN • soft, doughy skin texture • easy bruising • premature rupture of fetal membranes • large hernias (umbilical, inguinal). OTHER SYMPTOMS: allergies • aortic root dilitation • asthma • bladder emptying difficulty celiac • Chiari • spine disease • chronic fatigue • dental problems • depression • anxiety • cerebrospinal fluid anomalies • dysautonomia, postural orthostatic tachycardia syndrome • dysmotility • gastric reflux • growing pains hearing problems • heart problems • aneurysms • immune system involvement • mast cell activation syndrome keratoconus • local anesthetic anomalies • migraines • osteoarthritis • osteoporosis • pain (chronic acute, microtrauma, myofascial, etc.) • pelvic floor/uterine prolapes • serotonin anomalies • steroid problems • tethered cord

Why Are My EHleRs-DanLOS sYmptoMS woRSe than THe rEst Of mY fAMily’S?

We DoN’t Know YET.

WWW.EDNF.ORG


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