Phenotypes for disease #00169 (EDS (Ehlers-Danlos syndrome (EDS)))

241 entries on 3 pages. Showing entries 1 - 100.
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0000000804 - Unknown - - - - hypermobility of large joints; hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; eyse bluish sclerae; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, hypertrophic scars hearing loss - - normal 2y quadriceps, irregular oxidative enzymes; EM focal myofibrillar rearrangments 3m normal; 15ymyopathic Division of Human Genetics, Innsbruck 00001642
0000000805 - Unknown - - - - hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, easy bruising hearing loss - - slightly elevated (1.2x) 2y quadriceps, marked fiber atrophy; 4y marked atrophy, proliferation of fatty tissue; 7y anterior tibial, myopatic, proliferation of fatty tissue; 30y paraspinal, mildly moypathic, atrophic fibers 6y normal; 30y myopathic Division of Human Genetics, Innsbruck 00001643
0000000806 - Unknown - - - - hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, easy bruising hearing loss - - normal 4m quadriceps, mildly myopathic; 4y paraspinal, areas with fiber atrophy, slightly increasd intrafusal fat; 6y paraspinal, areas with central activity defects of oxidative enzymes, EM: focal myofibrillar rearrangements 4m normal; 2y normal Division of Human Genetics, Innsbruck 00001644
0000000807 - Unknown - - - - hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: soft, plantar softness, follicular hyperkeratosis normal - - normal 2y quadriceps, mildly mypathic; 6y myopathic; 12y dorsal, myopathic with increased variation of fiber diameter, EM: bifurcation of sarcomeres, small zones of Z-band streaming and some disorganized myofibrils 1y myopatic Division of Human Genetics, Innsbruck 00001645
0000000808 - Unknown - - - - hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet;fractures; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; valvular abnormalities heart; skin: hyperelastic, soft, plantar softness, easy bruising hearing loss - - slightly elevated (1.2x) 1y, quardriceps, myopahtic - Division of Human Genetics, Innsbruck 00001646
0000000809 - Unknown - - - - hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis hearing loss - - slightly elevated (1.3x) 1y quadriceps, mildly myopatic with increased variation of fiber diameter - Division of Human Genetics, Innsbruck 00001647
0000000920 - Familial - - - - ascertainment ; clinical presentation - - - - - - Division of Human Genetics, Innsbruck 00001766
0000000921 - Unknown - - - - ascertainment ; clinical presentation - - - - - - Division of Human Genetics, Innsbruck 00001767
0000000922 - Unknown - - - - ascertainment ; clinical presentation - - - - - - Division of Human Genetics, Innsbruck 00001768
0000000923 - Unknown - - - - ascertainment ; family analysis - - - - - - Division of Human Genetics, Innsbruck 00001769
0000000924 - Unknown - - - - ascertainment ; newborn screening - - - - - - Division of Human Genetics, Innsbruck 00001770
0000000925 - Unknown - - - - ascertainment ; clinical presentation - - - - - - Division of Human Genetics, Innsbruck 00001771
0000000926 - Unknown - - - - ascertainment ; clinical presentation - - - - - - Division of Human Genetics, Innsbruck 00001772
0000000927 - Familial - - - - ascertainment ; clinical presentation - - - - - - Division of Human Genetics, Innsbruck 00001773
0000000928 - Unknown - - 00y04m - ascertainment ; clinical presentation - - - - - - Division of Human Genetics, Innsbruck 00001774
0000000929 - Unknown - - 35y - ascertainment ; clinical presentation; optic atrophy, ataxia, spasticity - - - - - - Division of Human Genetics, Innsbruck 00001775
0000000930 - Unknown - - 30y - ascertainment ; clinical presentation; dementia, ataxia, spasticity, cerebellar syndrome - - - - - - Division of Human Genetics, Innsbruck 00001776
0000000931 - Familial - - - - - - - - - - - Division of Human Genetics, Innsbruck 00001777
0000000932 - Unknown - - 52y - ascertainment ; clinical presentation; dementia, ataxia - - - - - - Division of Human Genetics, Innsbruck 00001778
0000060796 - Unknown - - - - - - - - - - - Gemeinschaftspraxis für Humangenetik Dresden 00080065
0000073497 - Familial, X-linked recessive - - 05y - pectus carinatum(HP0000768) scoliosis (HP0002650) mitral valve prolaps (HP0001634) aortic dilatation (HP0001724) soft skin (HP0000977) spontaneous pneumothorax (HP0002108) diaphragmatic eventration (HP0009110) - - - - - - Johan den Dunnen 00095104
0000073498 - Unknown - - 05y - abnormality of the tricuspid valve (HP0001702) abnormality of the mitral valve (HP0001633) cutis laxa (HP0000973) - - - - - - Johan den Dunnen 00095105
0000105571 - Familial, autosomal dominant - - - - Ehlers-Danlos Syndrome type II - - - - - - Johan den Dunnen 00132808
0000105572 - Familial, autosomal dominant - - - - Ehlers-Danlos Syndrome type II - - - - - - Johan den Dunnen 00132809
0000129794 - Familial, autosomal recessive 39y - 13y? Hyperextensible skin, Redundant skin, Dislocations, Joint hypermobility Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, Mitral valve prolapse, Structural foot deformity, Prematurely aged appearance, kyphoscoliosis , normal - 39y - - - Moritz Hebebrand 00164776
0000129795 - Familial, autosomal recessive 35y - - - Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Mitral valve prolapse, Severe osteopenia, Structural foot deformity, cryptorchidism, motor delay, impaired temperature sensation, keratoconjuncitivitis sicca, Piezogenic pedal papules nr - - - - - Moritz Hebebrand 00164777
0000129797 - Familial, autosomal recessive 33y - - - Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, scoliosis, thoracic scoliosis, facet joint arthrosis, degenerative disc disease, severe osteopenia, mitral valve prolapse, aortic dilatation, carotid artery stenosis, structural foot deformity, Piezogenic pedal papules, sacral dimple, hypertriglyceridemia MRI: empty sella normal - - - - - Moritz Hebebrand 00164779
0000129800 - Familial, autosomal recessive 12y - - - Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, hernias, Interpedicular narrowing, severe osteopenia, structural foot deformity, congenital hypotonia, poor feeding, motor delay, diabetes mellitus, cellulitis, micrognathia, high arched palate, bilateral ptosis, normal - - - - - Moritz Hebebrand 00164781
0000199424 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260890
0000199425 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260891
0000199426 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260892
0000199427 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260893
0000199428 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260894
0000199429 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260895
0000199430 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260896
0000199431 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260897
0000199432 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260898
0000199433 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260899
0000199434 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260900
0000199435 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260901
0000199436 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260902
0000199437 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260903
0000199438 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260904
0000199439 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSKSCL-2 - - see paper; … - - - - - - Johan den Dunnen 00260905
0000203514 suspected EDS Unknown 19y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - 19y - - - Lucia Micale 00265729
0000203515 suspected EDS Unknown 23y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - The patient has blue sclerae, generalized joint hypermobility, multiple joint dislocations, three fractures in adulthood, recurrent diverticulitis requiring hemicolectomy, mild mitral valve prolapse, and insufficiency and stenosis of moderate degree of the aortic valve. - - - - - - Lucia Micale 00265730
0000203516 suspected EDS Unknown 56y - - - - - - - - - - Lucia Micale 00265731
0000203517 suspected EDS Unknown 03y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - long face, mild facial asymmetry, mild left esotropia, blue sclerae, soft and doughy skin all over the body, mild skin hyperextensibility of the limbs, hypermobility of the fingers and knees (Beighton score 6/8), accentuated dorsal kyphosis, flatfeet with extreme pronation of the hindfoot, genua valga, bilateral hallux valgus, and underdevelopment of the leg muscles - - - - - - Lucia Micale 00265732
0000203518 suspected EDS Unknown 30y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265733
0000203519 suspected EDS Unknown 40y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265734
0000203521 suspected EDS Familial 06y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265735
0000203522 suspected EDS Unknown - osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265736
0000203523 suspected EDS Unknown - osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265737
0000203524 suspected EDS Unknown - osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265738
0000203525 suspected EDS Familial 13y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - EDS-related features. OI-related features were limited to mildly reduced bone mass, occasional fractures and short stature - - - - - - Lucia Micale 00265739
0000203527 suspected EDS Unknown 21y osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265740
0000203528 suspected EDS Unknown - osteogenesis imperfecta/Ehlers-Danlos syndrome overlap - - - - - - - - - Lucia Micale 00265741
0000210557 Marfan syndrome Familial, autosomal recessive 19y Ehlers-Danlos syndrome (EDS) 19y - atrophic scars, tall stature, arachnodactyly, severe myopia nr reduced expression at western blot 23y - - - Edoardo Errichiello 00276001
0000228725 musculocontractural EDS Familial, autosomal recessive 02y - - - see paper; ..., facial dysmorphism, frontal bossing, open anterior fontanelle, downward-slanting palpebral fissures, telecanthus, bluish sclerae, high arched palate, tent-shaped lips, dental crowding, brachycephaly, prominent ears; arachnodactyly, adducted thumbs, joint hyperlaxity, inguinal hernia, congenital bilateral talipes equino varus; hypermobility finger, elbow, and knee joints; tendency to atrophic scarring skin - - - - - - Johan den Dunnen 00301625
0000228726 musculocontractural EDS Familial, autosomal recessive 20y EDSMC1 - - see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; no short palpebral fissures; no short nose with hypoplastic columella; long philtrum; thin upper lip vermilion; no palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; congenital hip dislocation; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; retinal detachment; no microcornea; no neurologic abnormalities; cardiovascular abnormalities; valvular abnormality; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; no hearing abnormalities - - - - - - Sofie Symoens 00301626
0000228727 musculocontractural EDS Familial, autosomal recessive 36y EDSMC1 - - see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; no short palpebral fissures; short nose with hypoplastic columella; no long philtrum; no thin upper lip vermilion; no palatal abnormalities; no small mouth; no microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; no joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; delayed wound healing; fine palmar creases; no myopia; no retinal detachment; microcornea; no cardiovascular abnormalities; no kidney abnormalities; bowel dysfunction; no hearing abnormalities - - - - - - Sofie Symoens 00301627
0000228728 musculocontractural EDS Familial, autosomal recessive 6y EDSMC1 - - see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; multiple congenital contractures; flexed/adducted thumbs; talipes equinovarus; contractures fingers; hyperextensible skin; thin, fragile, transparent skin; easy bruising; no atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; no retinal detachment; no microcornea; neurologic abnormalities; ventricular defect; hypoplasia septum pellucidum; Dandy‐Walker anomaly; no cardiovascular abnormalities; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; hearing abnormalities - - - - - - Sofie Symoens 00301628
0000228729 musculocontractural EDS Familial, autosomal recessive 23y EDSMC1 - - see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; retinal detachment; microcornea; no cardiovascular abnormalities; cryptorchidism - - - - - - Sofie Symoens 00301629
0000228730 musculocontractural EDS Familial, autosomal recessive 18y EDSMC1 - - see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; microcornea; cardiovascular abnormalities; atrial septum defect; cryptorchidism; hearing abnormalities - - - - - - Sofie Symoens 00301630
0000228731 musculocontractural EDS Familial, autosomal recessive 48y EDSMC2 - - see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; small mouth; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; muscular hypotonia; no kyphoscoliosis; tapering fingers / toes; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; fine palmar creases; cardiovascular abnormalities; valvular abnormality - - - - - - Sofie Symoens 00301631
0000228732 musculocontractural EDS Familial, autosomal recessive 39y EDSMC2 - - see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; long philtrum; thin upper lip vermilion; small mouth; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; fine palmar creases; no cardiovascular abnormalities; hernia - - - - - - Sofie Symoens 00301632
0000228733 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSSPD1 - - see papers; ..., short stature, limb anomalies - - - - - - Johan den Dunnen 00301633
0000228734 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSSPD1 - - see paper; ..., short stature, limb anomalies - - - - - - Johan den Dunnen 00301634
0000228735 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSSPD1 - - see paper; ..., short stature, limb anomalies - - - - - - Johan den Dunnen 00301635
0000228736 Ehlers-Danlos syndrome Familial, autosomal recessive - EDSSPD1 - - see paper; ..., short stature, hypotonia, joint hypermobility, skeletal features, prominent forehead, thin soft tissue and prominent eyes; - - - - - - Johan den Dunnen 00301636
0000228737 Larsen of Reunion Island syndrome Familial, autosomal recessive 32y EDSSPD1 - - birth length 43 cm, adult height 113 cm, BMI 38; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations bilateral hips and elbows, right shoulder, right wrist; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis - - - - - - Francois Cartault 00301637
0000228738 Larsen of Reunion Island syndrome Familial, autosomal recessive 22y EDSSPD1 - - birth length 42 cm, adult height 130 cm, BMI 32.5; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, left shoulder; no brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301638
0000228739 Larsen of Reunion Island syndrome Familial, autosomal recessive 15y EDSSPD1 - - birth length 46 cm, 14y-height 132 cm, BMI 25.2; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, right wrist, shoulders; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; right Genu recurvatum - - - - - - Francois Cartault 00301639
0000228740 Larsen of Reunion Island syndrome Familial, autosomal recessive 29y EDSSPD1 - - birth length 42.5 cm, adult height 122 cm, BMI 45.9; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, left patella; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301640
0000228741 Larsen of Reunion Island syndrome Familial, autosomal recessive 13y EDSSPD1 - - birth length 43 cm, adult height 127 cm, BMI 16.7; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left shoulder; no advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301641
0000228742 Larsen of Reunion Island syndrome Familial, autosomal recessive 36y EDSSPD1 - - birth length 39 cm, adult height 127 cm, BMI 24.8; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations right knee, shoulders, fingers; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; bilateral Genu recurvatum - - - - - - Francois Cartault 00301642
0000228743 Larsen of Reunion Island syndrome Familial, autosomal recessive 11y EDSSPD1 - - birth length 41 cm, 10y-height 111 cm, BMI 14.6; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations right knee; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301643
0000228744 Larsen of Reunion Island syndrome Familial, autosomal recessive 46y EDSSPD1 - - birth length ? cm, adult height 112 cm, BMI 32.8; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; cleft palate; scoliosis/kyphosis; joint dislocations right hip, right knee; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis; bilateral Genu recurvatum - - - - - - Francois Cartault 00301644
0000228745 Larsen of Reunion Island syndrome Familial, autosomal recessive 15y EDSSPD1 - - birth length 39 cm, adult height 138 cm, BMI 39.3; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; no scoliosis/no kyphosis; joint dislocations bilateral elbows and knees; no advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301645
0000228746 Larsen of Reunion Island syndrome Familial, autosomal recessive 21y EDSSPD1 - - birth length 38 cm, adult height 121 cm, BMI 17; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, patella, bilateral wrist, right shoulder; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301646
0000228747 Larsen of Reunion Island syndrome Familial, autosomal recessive 19y EDSSPD1 - - birth length 41 cm, adult height 131 cm, BMI 17.1; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; bilateral Genu recurvatum - - - - - - Francois Cartault 00301647
0000228748 Larsen of Reunion Island syndrome Familial, autosomal recessive 35y EDSSPD1 - - birth length 42 cm, BMI 17.5; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left hip, knees; no advanced bone age; Swedish key; no radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301648
0000228749 Larsen of Reunion Island syndrome Familial, autosomal recessive 25y EDSSPD1 - - birth length 40 cm, adult height 128 cm, BMI 20; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; Megalocornea; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left knee, fingers; advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301649
0000228750 Larsen of Reunion Island syndrome Familial, autosomal recessive - EDSSPD1 - - deceased; birth length 43 cm, adult height 132 cm, BMI 20.8; facial dysmorphism; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations shoulders, hips, knees; radioulnar synostosis; bilateral Genu recurvatum - - - - - - Francois Cartault 00301650
0000228751 Larsen of Reunion Island syndrome Familial, autosomal recessive 24y EDSSPD1 - - birth length 39 cm, adult height 117 cm, BMI 41.1; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations elbows, right hip, patella, fingers; advanced bone age; no brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; no radioulnar synostosis; bilateral Genu recurvatum - - - - - - Francois Cartault 00301651
0000228752 Larsen of Reunion Island syndrome Familial, autosomal recessive 34y EDSSPD1 - - birth length 38.5 cm, adult height 120 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, hips; no Swedish key; no radioulnar synostosis; bilateral Genu recurvatum - - - - - - Francois Cartault 00301652
0000228753 Larsen of Reunion Island syndrome Familial, autosomal recessive 22y EDSSPD1 - - birth length 41 cm, adult height 127 cm; facial dysmorphism; no cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations knees; no advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301653
0000228754 Larsen of Reunion Island syndrome Familial, autosomal recessive 29y EDSSPD1 - - birth length 45 cm, adult height 120 cm, BMI 19.8; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, elbows; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301654
0000228755 Larsen of Reunion Island syndrome Familial, autosomal recessive 25y EDSSPD1 - - BMI 31.25; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations hips, elbows, knees; advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301655
0000228756 Larsen of Reunion Island syndrome Familial, autosomal recessive 29y EDSSPD1 - - birth length 42 cm, adult height 133 cm; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left shoulder, knees, elbows; radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301656
0000228757 Larsen of Reunion Island syndrome Familial, autosomal recessive 21y EDSSPD1 - - birth length 44 cm, adult height 131 cm, BMI 26.3; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations knees, elbows, fingers; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum - - - - - - Francois Cartault 00301657
0000228758 Larsen of Reunion Island syndrome Familial, autosomal recessive 04y EDSSPD1 - - birth length 38 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis - - - - - - Francois Cartault 00011668
0000228775 EDS Familial, autosomal recessive 3y6m EDSSPD1 - - see paper; ..., short stature, joint hypermobility, radioulnar synostosis, hypermetropia, severe osteopenia - - - - - - Johan den Dunnen 00301674
0000228776 EDS Familial, autosomal recessive 13y EDSSPD1 - - see paper; ..., short stature, joint hypermobility, radioulnar synostosis, severe hypermetropia - - - - - - Johan den Dunnen 00301675
0000228777 EDS Familial, autosomal recessive 5y EDSSPD1 - - see paper; ..., global developmental delay, pre‐ and post‐natal growth restriction, striking joint laxity with soft skin, scoliosis; triangular face, prominent forehead, proptosis, small nose, small jaw; corneal clouding, colobomas iris and optic nerve, posterior subcapsular cataracts - - - - - - Johan den Dunnen 00301676
0000228778 EDS Familial, autosomal recessive - EDSSPD1 - - see paper; ..., 3 affected pregnancies showing short limbs, cystic hygroma, perinatal death; 2 spontaneously aborted; 1 survived 1 day after term delivery short limbs, bell-shaped thorax, 11 ribs, absent thumbs, cleft palate - - - - - - Johan den Dunnen 00301677
0000228779 EDS Familial, autosomal recessive 30y EDSSPD1 - - see paper; ..., short stature, skin hyperextensibility, facial dysmorphisms, no radioulnar synostosis, muscle hypotonia, joint laxity, no intellectual disability, neurosensorial hearing loss, limb edema of lymphatic origin - - - - - - Johan den Dunnen 00301678
0000228846 Ehlers-Danlos-syndrome Familial, autosomal recessive 10y - - - severe S-formed scoliosis, ptosis right eyelid, asymmetrical face, midface hypoplasia, shallow orbitae with pseudoexophtalmus, bilateral adducted thumbs, non progressive flexion contractures proximal finger joints, atrophy thenar muscles, overall poor muscle development; 2y-bilateral sensorineural deafness; thin and soft skin, without scarring, reduced skin creases both palms; motor development slightly retarded, cognitive function mildly impaired; sister similarly affected, no significant scoliosis - - - - - - Johan den Dunnen 00301748
0000228847 Stickler syndrome-like Familial, autosomal recessive - - - - see paper; ..., ocular abnormalities, risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, recognisable craniofacial dysmorphisms, developmental delay, risk for vascular dissection - - - - - - Johan den Dunnen 00301749
0000232013 Ehlers-Danlos syndrome classical type Complex 08y Ehlers-Danlos syndrome classical type - - - - - 08y - - - Philippe Khau Van Kien 00306169
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