Table 1 Clinical findings of the 40 patients with cEDS
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 |