Phenotypes for disease #05784 (EDSCL1 (Ehlers-Danlos, classic syndrome, type 1 (EDSCL1 EDS1)), OMIM:130000)

74 entries on 1 page. Showing entries 1 - 74.
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AscendingPhenotype ID     
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Age/Onset     
Phenotype/Onset     
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Individual ID     
0000242035 - - Ischemic stroke (A. cerebri media left), Focal-onset seizure Unknown 47y - - - Andreas Laner 00319993
0000251972 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333788
0000251973 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333789
0000251974 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333790
0000251975 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333791
0000251976 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333792
0000251977 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333793
0000251978 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333794
0000251979 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333795
0000251980 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333796
0000251981 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333797
0000251982 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333797
0000251983 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333798
0000251984 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333799
0000251985 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333800
0000251986 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333801
0000251987 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333802
0000251988 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333803
0000251989 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00333804
0000252581 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334520
0000252582 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334521
0000252584 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334522
0000252585 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334527
0000252590 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334550
0000252591 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334551
0000252592 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334552
0000252594 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334554
0000252595 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334555
0000252616 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334576
0000252617 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334577
0000252618 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334578
0000252619 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334579
0000252620 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334580
0000252629 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334806
0000252631 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334807
0000252632 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334807
0000252634 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334809
0000252635 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334810
0000252636 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334811
0000252637 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334812
0000252638 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334813
0000252639 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334814
0000252641 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334816
0000252642 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334817
0000252643 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334819
0000252645 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334820
0000252646 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334821
0000252650 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334825
0000252659 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334835
0000252661 cEDS cEDS - Familial, autosomal dominant - - - - Marlies Colman 00334838
0000252664 kEDS cEDS Bilateral hip dislocation, progressive scoliosis Familial, autosomal dominant - - - - Marlies Colman 00334840
0000297492 cEDS cEDS Hyperextensible skin HP:0000974, Atrophic scars HP:0001075, Fragile skin HP:0001030, Joint hypermobility HP:0001382 Familial, autosomal dominant 13y - 01y - Sonja Strang-Karlsson 00404934
0000303226 - - Premature aged appearance, facial scars, palpebral skin redundancy, prominent eyes with greyish sclerae, and a fine nose and thin lips. Her skin was remarkably doughy, soft and hyperextensible with a few dilated, atrophic scars on her arm and varicose veins at the lower limbs. At adult age, she suffered from chronic fatigue and widespread pain, and she reported bad dental quality. Unknown 56y 20y-30y ? - Oumaima Nehaili 00411136
0000303271 cEDS - Presented w/ generalised joint hypermobility, most pronounced at the distal joints. No dislocations present. Severe varicose veins were seen on the lower limb. Small atrophic scars at his knees and a haemosiderotic scar on his right lower leg. He also suffered from chronic pain, fatigue and poor dentition. Unknown 29y ? ? - Oumaima Nehaili 00411196
0000303490 cEDS - joint hypermobility was noted with remaining distal hypermobility and recurrent dislocations of small joints and shoulders. She also presented moderate scoliosis, halluces valgi, pedes cavi and piezogenic papulae. Her skin was soft, doughy, and hyperextensible (almost cutis laxa-like) with increased fragility and multiple atrophic scars. She showed no increased skin translucency, but there was easy bruising with a history of haematomas. Besides varicose veins and a carotid stenosis at age 62 years, there were no other vascular complications and echocardiography and echo-doppler of the supra- aortic vessels showed no abnormalities besides a mild mitral valve prolapse. Her facial features included mild hypertelorism, light blue sclerae and a premature aged appearance. Familial 62y 75y 01y? - Oumaima Nehaili 00411453
0000303491 cEDS - soft, doughy and hyperextensible skin and multiple atrophic scars. He reported easy bruis- ing with spontaneous haematomas, but no major vascular complications. Echocardiographic investigations revealed no abnormalities. Familial 16y - - - Oumaima Nehaili 00411454
0000303492 cEDS - cutaneous features reminiscent of cEDS including a soft, doughy, hyperextensible skin with presence of atrophic scars (without haemosiderin deposits). Aged 48 years, a Beighton score of 4/9 was noted with distal joint hypermobility. His facial features were evocative of both cEDS and vEDS. He also had a history of an inguinal hernia and incisional hernia, both requiring repair and he suffered from a spontaneous perforation of a sigmoid colon diverticulum at age 41. Vascular complications include a right renal artery dissection and an internal iliac aneurysm (16mm). He further reported easy bruising with frequent haematomas requiring drainage twice, and increased gum bleeding. He inherited the variant from his father who had a similar phenotype and had a colonic perforation during a polypectomy at the age of 48. Familial 48y - - - Oumaima Nehaili 00411455
0000315986 - - Poor healing was noted following a tympanoplasty. Patient fractured his wrist and elbow while playing basketball. He experienced multiple spontaneous knee dislocations beginning at 9 years of age and generalized joint hypermobility, loose skin, excessive bruising, and poor scarring. Familial, autosomal dominant 13y - - - Nassim Louail 00424791
0000319164 EDS EDS Fragile skin from early childhood - plastic surgery required for degloving incidents. inguinal hernia repair 8yr; recurrent dislocations; early periodontal disease and teeth loss. 'pseudotumour' molluscoid lumps over hand and elbows - work related. Aortic aneurysm detected age 50yr (aortic root 45mm) when evaluated for syncopal episode. Isolated (sporadic) 53 <10y - bilateral talipes at birth. Felicity Collins 00428259
0000321098 - - Symptoms of the EDS type 1, including hyperextensible skin, tissue fragility, and bruised skin. A Beighton score of 5. Familial, autosomal recessive - - - - Nassim Louail 00430290
0000321099 - - mild intellectual disability; Joint hypermobility. Dysmorphic features consisting of palpebral fissures, telecanthus, epicanthus, a long nose, and prominent alae nasi, prominent cheeks, and cup ears. Unknown 24y - - - Nassim Louail 00430291
0000321752 - - Easy bruising, unresolved pre-tibial hematoma, multiple ecchymoses, joint hypermobility and polyarthralgia were noted since childhood. Beighton score of 7. Unknown 04y 05y - - Nassim Louail 00431143
0000321761 - - Meets major criteria. Dislocation of joints, diffuse body pain. Familial 18y - - - Oumaima Nehaili 00431152
0000321762 - - Meets major criteria. Dislocation of joints, Family history of cEDS. IBS, Marfanoid habitus, migraines, myopia, mitral insufficiency, ADHD. Familial 20y - - - Oumaima Nehaili 00431153
0000321763 - - Meets major criteria. Delayed wound healing, dislocation of joints, arthralgias. Unknown - - - - Oumaima Nehaili 00431154
0000321764 - - Meets major criteria. Dislocation of joints, arthralgias, delayed wound healing, GERD, IBD, scoliosis, osteoporosis, osteomalacia. Unknown - - - - Oumaima Nehaili 00431155
0000321765 - - Meets major criteria. Hx of collarbone fracture, pectus carinatum, blue sclera, valgus knees. Unknown - - - - Oumaima Nehaili 00431156
0000321766 - - Meets major criteria. Dislocation of joints, arthralgias, delayed wound healing, Hx of hand fracture, pectus carinatum, POTS, IBD, hyperalgesia. Unknown - - - - Oumaima Nehaili 00431157
0000321767 - - Meets major criteria. Joint dislocations, delayed wound healing, arthralgias, GERD, IBS. Unknown - - - - Oumaima Nehaili 00431158
0000321768 - - Skin hyper-extensibility, generalized joint hypermobility. GERD, Hx of hernia. Unknown - - - - Oumaima Nehaili 00431159
0000321769 - - Skin hyper-extensibility, generalized joint hypermobility. Easy bruising, gothic palate. Unknown - - - - Oumaima Nehaili 00431160
0000325243 cEDS - Bilateral club feet, bilateral pes adductus, central coordination disturbance, and asymmetry of posture and tonus were noted and retrospectively attributed to joint hypermobility. Hypermobility of the ankles as a baby, recurring luxation of the patella and chronic joint pain at the age of four years, bluish discolorations on her shins and forearms, skin was very soft and hyperelastic; multiple subcutaneous papules and few atrophic scars. Familial 05y - - - Nassim Louail 00435001
0000325426 cEDS - A 30-year-old female presented to the plastic-surgery clinic with widen atrophic scars on forehead, elbows, knees and pretibial area that had developed since childhood. Physical examination revealed skin hyper extensibility, joint hypermobility, papyraceous scar and easy bruising. Unknown 30y - - - Nassim Louail 00435227
0000341593 classic EDS, ?vascular EDS EDSCL1 Iliac artery aneurysm (HP:4000067), incisional hernia (HP:0004872), bruising susceptibility (HP:0000978), soft doughy skin (HP:0001027), hyperextensible skin (HP:0000974), blue sclerae (HP:0000592), joint hypermobility (HP:0001382), pectus excavatum (HP:0000767). Familial, autosomal dominant 34y 46y - Iliac artery aneurysm HP:4000067 at age 40 and 46. Deepak Subramanian 00452943
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