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Table 1 Clinical findings of the 40 patients with cEDS

From: Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Patient IDs Sex/Age (y) Family history Hyperextensible smooth skin Scars Joint hypermobility Beighton score Other features
AN_002501 F/15 - + + A + (9/9) Easy bruising, Striae distensae , Piezogenic papules, Pes planus , Dislocations, Chronic articular pain
AN_002502 F/29 - + + A + (7/9) Hypotonia at birth, Delayed motor development, Blue scleraea, Hypertelorism, Epicanthus, Micrognathia, Hypermetropia, Astigmatism, Reduced anterior chamber depth, Easy bruising, Piezogenic papules, Palmar creases, Hands and feet deformity, Scoliosis, Spondylolisthesis, Hallux valgus , Pes planus , Renal ptosis, Gastroesophageal reflux
AN_002503 father of M/40 + + + A + (9/9) Thin lips, Easy bruising, Molluscoid pseudotumor (elbow), Piezogenic papules, Pes planus , Varicose veins
AN_002504 sister of F/13 + + + A (one) + (9/9) Epicanthus, Micrognathia, Easy bruising, Piezogenic papules, Pes planus
AN_002505 F/6 + + Doughy + A, H + (9/9) Epicanthus, Micrognathia, Easy bruising, Piezogenic papules, Pes planus
AN_002506 M/24 - + Doughy + A + (5/9) Bleeding gums, Dysphonia, Myopia, Easy bruising, Piezogenic papules, Hallux valgus , Pes planus , Osteoporosis, Dislocations (recurrent), Severe chronic articular pain (daily therapy with FANS), Aortic regurgitation, Mitral valve prolapse, Inguinal hernia, Chronic fatigue syndrome
AN_002507 daughter of F/10 + + Doughy + A + (9/9) High palate, Mild prognathism, Easy bruising, Dental malocclusion treated with byte
AN_002508 F/40 + + Doughy - + (5/9) Blue sclerae , Striae distensae , Easy bruising, Mild scoliosis, Transitional lumbosacral vertebra, Subdislocations (sporadic), Low back pain, Chronic sinusitis, Atopy, Hashimoto’s thyroiditis, Melanoma treated with surgery
AN_002509 M/5 - + Doughy + A + (8/9) Blue sclerae, Mild hypertelorism, Micrognathia, Low-set ears, Easy bruising, Piezogenic papules, Valgus knee, Mobile testis, Atopic dermatitis
AN_002510 M/4 - + Doughy + A + (9/9) Delayed motor development, Blue sclerae, Easy bruising, Piezogenic papules, Pes planus , Gastroesophageal reflux, Umbilical hernia
AN_002511 F/15 - + Doughy + A (one) + (8/9) Blue sclerae, Easy bruising, Arachnodactyly, Mild scoliosis, Valgus knees, Pes valgus and cavus , Subdislocations, Syonvitis (hip), Chronic articular pain, Posterior cerebral artery hypoplasia, Anal fissures
AN_002512 mother of F/41 + + - - (2/9) Blue sclerae, Epicanthus, High palate, Myopia, Easy bruising, Striae distensae , Piezogenic papules, Hallux valgus , Pes planus , Chronic fatigue syndrome
AN_002513 M/10 + + Doughy + A + (8/9) Blue sclerae, Epicanthus, Myopia, Mild strabismus, Micro/retrognathia, High palate, Easy bruising, Piezogenic papules, Pectus excavatum , Winged scapulae, Kyphosis, Pes planus , Mitral valve prolapse, Tricuspid and pulmonary regurgitation, Atrio-ventricular block (1 st and 2 nd degree), Umbilical hernia treated with surgery, Chronic fatigue syndrome
AN_002514 F/34 - + + A + (5/9) Easy bruising, Plantar creases, Scoliosis, Sacroiliitis, Subdislocations, Chronic articular pain, Right pulmonary artery hypoplasia, Spontaneous abortion (12 w)
AN_002515 F/7 - + Doughy + A + (7/9) Epicanthus, Hypertelorism, Micrognathia, Easy bruising, Hallux valgus , Mobile patella, Mild scoliosis, Pes planus
AN_002516 F/67 - + Loose + A + (8/9) Easy bruising, Deep venous thrombosis, Hypertension, Menometrorrhagia and hysterectomy, Multiple myeloma and death for renal failure (67 y)
AN_002517 F/33 - + Doughy, Thin + A - (2/9) Blue sclerae, Astigmatism, Palmar creases, Easy bruising, Piezogenic papules, Mild scoliosis, Pes planus , Cervical disc hernias with articular blocks, Subdislocations (sporadic), Chronic articular pain, Osteopenia, Muscle hypotonia, Acrocyanosis, Mild mitral, tricuspid and pulmonary regurgitation, Menometrorrhagia, Gastroesophageal reflux, Periodontitis
AN_002518 mother of F/37 + + Doughy + A + (9/9) High palate, Low set ears, Micrognathia, Easy bruising, Piezogenic papules, Mild scoliosis, Subdislocations, Discal hernias, Chronic articular pain, Constipation
AN_002519 M/5 + + Doughy + A + (9/9) High palate, Epicanthus, Micrognathia, Easy bruising, Piezogenic papules, Winged scapulae, Pes planus
AN_002520 sister of F/9 + + Doughy + A + (5/9) Hypotonia at birth, Blue sclerae, Micrognathia, Myopia, Easy bruising, Dislocations, Chronic articular pain (knees)
AN_002521 son of M/7 + + Doughy + A + (5/9) Hypotonia at birth, Blue sclerae, Micrognathia, Easy bruising, Dislocations
AN_002522 son of M/35 + + + A - (3/9) Blue sclerae, Micrognathia, Easy bruising, Dislocations
AN_002523 F/60 + + Loose + A - (3/9) Blue sclerae, Easy bruising, Polyabortivity, Dislocations, Chronic pain
AN_002524 F/21 - + Doughy + A, H + (7/9) Blue sclerae, Epicanthus, Micrognathia, Anteverted nostrils, Easy bruising, Chronic headache
AN_002525 M/7 - + Doughy + A + (7/9) Blue sclerae, High palate, Mild epicanthus, Easy bruising, Piezogenic papules, Valgus knee, Hallux valgus , Mobile patella, Pes planus , Dislocations (sporadic)
AN_002526 M/46 - + Doughy + A - (4/9) Blue sclerae, High palate, Micro-retrognathia, Easy bruising, Onychodystrophy, Piezogenic papules, Mild scoliosis, Spondylolisthesis, Severe bilateral hallux valgus, Pes cavus , Dislocations (recurrent), Chronic and generalized pain, Arthrosis, Tendinopathy, Carpal tunnel syndrome, Chronic fatigue syndrome, Hypertension, Diabetes mellitus type II with retinopathy, Recurrent caries, Cataract
AN_002527 M/48 - + Doughy + A + (9/9) Easy bruising, Palmar creases, Mild scoliosis, Arthrosis, Gastroesophageal reflux, Periodontitis
AN_002528 twin of F/36 - + Doughy + A + (7/9) Hypotelorism, Myopia, Easy bruising, Piezogenic papules, Pectus excavatum , Mild scoliosis, Pes planus , Subdislocations, Chronic articular pain, Osteopenia, Aortic, tricuspid and pulmonary regurgitation, Mitral valve prolapse, Polyabortivity, Amenorrhea (high prolactin), Hereditary thrombophilia
AN_002529 F/36 - + Doughy + A + (8/9) Hypotelorism, Myopia, Easy bruising, Piezogenic papules, Pectus excavatum , Mild scoliosis, Pes planus , Subdislocations, Chronic articular pain, Osteopenia, Aortic, tricuspid and pulmonary regurgitation, Mitral valve prolapse, Polyabortivity, Hereditary thrombophilia
AN_002530 mother of F/43 + + Doughy + A + (9/9) Easy bruising, Talipes equinovarus treated with surgery, Mild scoliosis, Hypoplasia of upper femur, Coxa valga , Hip prosthesis, Arthrosis, Subdislocations, Chronic articular pain (daily therapy), Tricuspid regurgitation, Gastroesophageal reflux, Chronic gastritis, Polyabortivity, Cervical dysplasia (CIN2) treated with surgery, Atopy
AN_002531 M/9 + + Doughy + A, H + (7/9) Epicanthus, Easy bruising, Piezogenic papules, Talipes equinovarus treated with surgery, Mild scoliosis, Pes planus and valgus, Tachycardia, Gastroesophageal reflux
AN_002532 F/7 - + + A, H - (4/9) Epicanthus, Blue sclerae, High palate, Micrognathia, Easy bruising
AN_002533 M/21 - + + A + (6/9) Epicanthus, High palate, Strabismus, Hypermetropia, Anteverted nostrils, Micro-retrognathia, Easy bruising, Molluscoid pseudotumor, Mild pectus excavatum , Scoliosis, Ulnar deviation, Asymmetric legs, Hands and feet and deformity, Hallux valgus , Pes planus , Enthesopathies (recurrent), Dislocations (recurrent), Chronic articular pain, Chronic fatigue syndrome
AN_002534 F/39 - + Doughy Thin + A, H + (9/9) Anisocoria, Easy bruising, Piezogenic papules, Short stature, Severe congenital kyphoscoliosis treated with surgery (arthrodesis), Bilateral valgus knees, Severe hallux valgus , Pes planus , Recurrent generalized dislocations, Vertebral dislocations treated with surgery, Hip periarthritis, Arthrosis, Tendinopathy (recurrent), Enthesopathies (recurrent), Osteoporosis, Chronic articular pain (sporadic FANS and opioids therapy), Muscle hematomas and rupture, Mitral valve prolapse, Deep venous thrombosis, Chronic fatigue syndrome, Urethral and rectal prolapse, Recurrent hemorrhagic cystitis
AN_002535 brother of M/20 + + Doughy + A + (7/9) Delayed anterior fontanelle closure, Epicanthus, High palate, Hypoplastic uvula, Easy bruising, Bilateral molluscoid pseudotumor (elbow), Arachnodactyly, Scoliosis, Pectus excavatum (marked), Toes deformities, Mobile patella, Pes planus , Dislocations (sporadic), Mitral valve prolapse, Chronic fatigue syndrome, Atopy, Dysphagia, Epileptic seizures
AN_002536 daughter of F/11 + + Doughy + A + (7/9) Blue sclerae, High palate, Micrognathia, Easy bruising, Bilateral molluscoid pseudotumor (elbow), Arachnodactyly, Mild scoliosis, Pes planus , Toes deformities
AN_002537 M/53 + - Doughy + A - (0/9) Hypotonia at birth, Blue sclerae, Piezogenic papules, Hallux valgus, Pes planus, Gastrocnemius muscle rupture, Achilles tendon rupture, Enthesopathies (left knee, recurrent), Deep venous thrombosis, Hypertension (beta-blockers treatment)
cEDS1 F/65 + + Loose, wrinkled + A – (2/9) Blue sclerae, Easy bruising, Piezogenic papules, Mild scoliosis, Hallux valgus treated with surgery, Subdislocations (sporadic), Chronic articular pain, Carotid stenosis in antiaggregant therapy
cEDS2 F/4 - + Doughy + A + (9/9) Epicanthus, Blue sclerae, Anteverted nostrils, Easy bruising, Dislocations (sporadic)
cEDSv-l1 M/53 + + Doughy + A + (6/9) Blue sclerae, High palate, Hypoplastic uvula, Easy bruising, Piezogenic papules, Molluscoid pseudotumor (elbow), Pectus excavatum , Severe left hallux valgus , Pes planus , Dislocations (sporadic), Chronic articular pain, Chronic perimalleolar lymphedema, Varicose veins, Mild mitral and aortic regurgitation, Left ventricular wall thickening, Aortic root ectasia, Vertebral artery tortuosity, Hepatic hemangioma, Chronic fatigue syndrome, Gastroesophageal reflux, Hiatal and abdominal hernias, Right inguinal hernia treated with surgery
  1. Abbreviations: A: atrophic scars; H: hypertrophic scars; y, years; w, weeks. Patient(s) ID AN_002501-37 correspond to the identifiers submitted in the LOVD EDS Variant Database (http://www.le.ac.uk/ge/collagen/); cEDS1-2: patients without identified causal mutation, not registered in LOVD; cEDSv-l1: vascular-like cEDS patient with COL1A1 causal mutation. a: In all of the patients the blue of the sclerae was faint.