Disease #00169 (EDS (syndrome, Ehlers-Danlos (EDS)))

Official abbreviation EDS
Name syndrome, Ehlers-Danlos (EDS)
OMIM ID -
Inheritance -
Individuals reported having this disease 1714
Phenotype entries for this disease 158
Associated with 10 genes ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB
Associated tissues -
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Remarks -


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1714 entries on 18 pages. Showing entries 1 - 100.
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00001642 - PubMed: Baumann 2012 The proband (P1) is great nephew of individual P2 who is also homozygous for the same variant. M ? Austria Caucasian - 0 - - EDS 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 FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001643 - PubMed: Baumann 2012 umbical herniae F ? Austria Caucasian - - - - EDS 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 FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001644 - PubMed: Baumann 2012 umbilical herniae F ? Italy Caucasian - - - - EDS 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 FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001645 - PubMed: Baumann 2012 PubMed: Bursztejn 2017 - F ? France Caucasian - 0 - - EDS 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 FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001646 - PubMed: Baumann 2012, Journal: Baumann 2012 umbilical herniae, microcephaly, learning difficulties M ? - Caucasian - 0 - - EDS 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 FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001647 P6 PubMed: Baumann 2012, Journal: Baumann 2012 - F ? Germany Caucasian - 0 - - EDS 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 FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001766 - Submitted by J. Zschocke - M ? - - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001767 - Submitted by J. Zschocke - F ? - - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001768 - PubMed: Ensenauer 2000, Patient 1 in PubMed: IJlst 2002, Patient 6 in PubMed: Wortmann 2010 - M ? Afghanistan - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001769 - Patient 2 in PubMed: IJlst 2002, Patient 3 in PubMed: Ly 2003, Patient 10 in PubMed: Wortmann 2010 sibling of patient 9 in Wortmann et al. (2010) = patient 2 in Ly et al. (2003) M ? Morocco - - - - - EDS ascertainment ; family analysis AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001770 - Patient 1 in PubMed: Ly 2003, Patient 4 in PubMed: Wortmann 2010 - M ? Lebanon - - - - - EDS ascertainment ; newborn screening AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001771 - PubMed: Ensenauer 2000, PubMed: Ly 2003 - M ? Afghanistan - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001772 - Patient 5 in PubMed: Ly 2003, PubMed: Gibson 1998, PubMed: Jooste 1994, Patient 7 in PubMed: Wortmann 2010 - F ? - - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001773 - PubMed: Illsinger 2004, Patient 8 in PubMed: Wortmann 2010 - M ? Germany Caucasian - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001774 - PubMed: Shoji 1999, PubMed: Matsumori 2005, Patient 5 in PubMed: Wortmann 2010 - M ? Japan - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001775 - Patient 1 in PubMed: Wortmann 2010, PubMed: Engelke 2006 - F ? Netherlands - - - - - EDS ascertainment ; clinical presentation; optic atrophy, ataxia, spasticity AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001776 - Patient 2 in PubMed: Wortmann 2010 - M yes United Kingdom (Great Britain) - - - - - EDS ascertainment ; clinical presentation; dementia, ataxia, spasticity, cerebellar syndrome AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001777 - Patient 2 in PubMed: Ly 2003, Patient 9 in PubMed: Wortmann 2010 sibling of patient 2 in Ijlst et al. (2002) = patient 3 in Ly et al. (2003) = patient 10 in Wortmann et al. (2010) M ? Morocco - - - - - EDS - AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001778 - PubMed: Eriguchi 2006, Patient 3 in PubMed: Wortmann 2010 - F yes - - - - - - EDS ascertainment ; clinical presentation; dementia, ataxia AUH AUH 2 1 Division of Human Genetics, Innsbruck
00011668 Pat22 PubMed: Cartault 2015, Journal: Cartault 2015 large multi-generation family, 22 afecteds, unaffected heterozygote carriers F - Reunion white - 0 - - EDS birth length 38 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis B4GALT7 B4GALT7 1 22 Francois Cartault
00080065 - - - - - Germany - - 0 - - EDS - COL5A2 COL5A2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00081291 - - - - - Germany - - 0 - - EDS, Ehlers-Danlos syndrome, cardiac valvular form . COL3A1 COL3A1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00095104 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, isolated case, heterozygous carrier mother with mild joint hypermobility (Beighton score 4/8) and no neurological symptomatology M - - - - 0 added by student Rosa van Ewijk - EDS pectus carinatum(HP0000768) scoliosis (HP0002650) mitral valve prolaps (HP0001634) aortic dilatation (HP0001724) soft skin (HP0000977) spontaneous pneumothorax (HP0002108) diaphragmatic eventration (HP0009110) FLNA FLNA 1 2 Johan den Dunnen
00095105 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, isolated case, unaffected heterozygous carrier mother M - - - - 0 added by student Rosa van Ewijk - EDS abnormality of the tricuspid valve (HP0001702) abnormality of the mitral valve (HP0001633) cutis laxa (HP0000973) FLNA FLNA 1 1 Johan den Dunnen
00132808 09683580-FamMK PubMed: Burrows 1998 5-generation family, 18 affecteds (7F, 11M) F;M no United Kingdom (Great Britain) - - 0 - - EDS Ehlers-Danlos Syndrome type II COL5A1 COL5A1 1 18 Johan den Dunnen
00132809 09683580-FamCH PubMed: Burrows 1998 5-generation family, affecteds (6F, 8M) F;M no United Kingdom (Great Britain) - - 0 - - EDS Ehlers-Danlos Syndrome type II COL5A1 COL5A1 1 14 Johan den Dunnen
00164776 FamD-II:1 - 2 affected siblings (1F, 1M), unaffected heterozygous mother F no (Greece) - - 0 yes corset, hand splints EDS Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, Mitral valve prolapse, Structural foot deformity, Prematurely aged appearance, kyphoscoliosis , - AEBP1 1 2 Moritz Hebebrand
00164777 29606302-FamAII1 PubMed: Blackburn 2019 2-generation family, 1 affected, unaffected carrier parents M no Germany;Panama white - 0 no - EDS 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 - AEBP1 2 1 Moritz Hebebrand
00164779 29606302-FamBII1 PubMed: Blackburn 2018 2-generation family, 1 affected, unaffected carrier parents M no Italy white - 0 - - EDS 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 - AEBP1 1 1 Moritz Hebebrand
00164781 27023906, 29606302-FamCIV4/6 PubMed: Alazami 2016, PubMed: Blackburn 2018 The ID for this family is 14DG1601. The patient has an affected older brother who is also homozygous for the pathogenic variant. The parents are consanguineous: double first cousins. The siblings presented here were later reported by Blackburn et al., 2018 as Family C. F yes ? (unknown) middle eastern - 0 - - EDS 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, AEBP1 AEBP1 1 2 Moritz Hebebrand
00260890 P1/FI PubMed: Giunta 2018 - F - Egypt Arab - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260891 P2/FII PubMed: Giunta 2018 - F - Iran - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260892 P3/FIII PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 2 Johan den Dunnen
00260893 P4/FIII PubMed: Giunta 2018 - M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260894 P5/FIV PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 2 Johan den Dunnen
00260895 P6/FIV PubMed: Giunta 2018 - M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260896 P7/FV PubMed: Giunta 2018 - F - Croatia (Hrvatska) - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260897 P8/FVI PubMed: Giunta 2018 - F - Austria - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260898 P9/FVII PubMed: Giunta 2018 - F - Brazil white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260899 P10/FVIII PubMed: Giunta 2018 - F - United States white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260900 P11/FIX PubMed: Giunta 2018 - M - United States white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260901 P12/FX PubMed: Giunta 2018 - F - Poland - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260902 P13/FXI PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260903 P14/FXII PubMed: Giunta 2018 - M - Turkey - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260904 P15/FXIII PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260905 P16/FXIV PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260906 Pat17 PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - EDS - FKBP14 FKBP14 1 1 Johan den Dunnen
00265729 Family3-P7 - - F ? Switzerland - 19y 0 - - EDS - COL1A2 COL1A2 1 1 Lucia Micale
00265730 Family4-P8 - - M ? Italy - 23y 0 - - EDS 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. COL1A1 COL1A1 1 1 Lucia Micale
00265731 Family5-P9 - - M - Italy - 56y 0 - - EDS - COL1A1 COL1A1 1 1 Lucia Micale
00265732 Family6-P10 - family, 2 affected M - - - - 0 - - EDS 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 COL1A2 COL1A2 1 2 Lucia Micale
00265733 Family6-P11 - - M - - - 30y 0 - - EDS - COL1A2 COL1A2 1 1 Lucia Micale
00265734 Family7-P12 - family, 2 affected M - - - 40y 0 - - EDS - COL1A1 COL1A1 1 2 Lucia Micale
00265735 Family7-P13 - - F - Italy - 06y 0 - - EDS - COL1A1 COL1A1 1 1 Lucia Micale
00265736 Family8-P14 - - F - Italy - 23y 0 - - EDS - COL1A1 COL1A1 1 1 Lucia Micale
00265737 Family9-P15ita - - M - Italy - - 0 - - EDS - COL1A1 COL1A1 1 1 Lucia Micale
00265738 Family10-P16 - - - - Italy - - 0 - - EDS - COL1A2 COL1A2 1 1 Lucia Micale
00265739 Family1-P1 - - M - Italy - - 0 - - EDS EDS-related features. OI-related features were limited to mildly reduced bone mass, occasional fractures and short stature COL1A2 COL1A2 1 1 Lucia Micale
00265740 Family2-P6 - - F - Switzerland - - 0 - - EDS - COL1A2 COL1A2 1 1 Lucia Micale
00265741 Family11-P17 - - - - Canada - - 0 - - EDS - COL1A2 COL1A2 1 1 Lucia Micale
00276001 EE - 1 affected child (M), two unaffected heterozygous carrier parents M no Italy White 22y 0 yes - EDS atrophic scars, tall stature, arachnodactyly, severe myopia - COL5A1 2 1 Edoardo Errichiello
00289044 - - - - - - - - 0 - - EDS - COL3A1 COL3A1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00301625 FamPat1 PubMed: Müller 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - 0 - - EDS 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 DSE DSE 1 1 Johan den Dunnen
00301626 Fam1P1 PubMed: Syx 2015 - M yes - Asia - 0 - - EDS 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 CHST14 CHST14 1 1 Sofie Symoens
00301627 Fam2P2 PubMed: Syx 2015 - F no - Curacao - 0 - - EDS 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 CHST14 CHST14 1 1 Sofie Symoens
00301628 Fam3P3 PubMed: Syx 2015 - M yes Morocco - - 0 - - EDS 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 CHST14 CHST14 1 1 Sofie Symoens
00301629 Fam4P4 PubMed: Syx 2015 2-generation family, 2 affected brothers. This patient has an affected brother (AN_001991) who is homozygous for the same variant. M yes - Asia - 0 - - EDS 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 CHST14 CHST14 1 2 Sofie Symoens
00301630 Fam4P5 PubMed: Syx 2015 - M yes - Asia - 0 - - EDS 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 CHST14 CHST14 1 1 Sofie Symoens
00301631 P6 PubMed: Syx 2015 2-generation family, 2 affected sisters (2F) F no Spain - - 0 - - EDS 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 DSE DSE 1 2 Sofie Symoens
00301632 P7 PubMed: Syx 2015 - F no Spain - - 0 - - EDS 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 DSE DSE 1 1 Sofie Symoens
00301633 patient PubMed: Okajima 1999, PubMed: Almeida 1999, PubMed: Kresse 1987, PubMed: Quentin 1990, PubMed: Furukawa 2002, PubMed: Gotte 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Denmark - - 0 - - EDS see papers; ..., short stature, limb anomalies B4GALT7 B4GALT7 2 1 Johan den Dunnen
00301634 family PubMed: Faiyaz-Ul-Haque 2004 PubMed: Walker 2004 PubMed: Seidler 2006 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives - yes Qatar Arab - 0 - - EDS see paper; ..., short stature, limb anomalies B4GALT7 B4GALT7 1 2 Johan den Dunnen
00301635 patient PubMed: Guo 2013, PubMed: Guo 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - 0 - - EDS see paper; ..., short stature, limb anomalies B4GALT7 B4GALT7 2 1 Johan den Dunnen
00301636 Pat1 PubMed: Caraffi 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - EDS see paper; ..., short stature, hypotonia, joint hypermobility, skeletal features, prominent forehead, thin soft tissue and prominent eyes; B4GALT7 B4GALT7 2 1 Johan den Dunnen
00301637 Pat1 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301638 Pat2 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301639 Pat3 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301640 Pat4 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301641 Pat5 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301642 Pat6 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301643 Pat7 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301644 Pat8 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301645 Pat9 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301646 Pat10 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301647 Pat11 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301648 Pat12 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301649 Pat13 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301650 Pat14 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301651 Pat15 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301652 Pat16 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301653 Pat17 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301654 Pat18 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301655 Pat19 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301656 Pat20 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301657 Pat21 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Francois Cartault
00301674 Pat1 PubMed: Salter 2016 - M - United Kingdom (Great Britain) - - 0 - - EDS see paper; ..., short stature, joint hypermobility, radioulnar synostosis, hypermetropia, severe osteopenia B4GALT7 B4GALT7 2 1 Johan den Dunnen
00301675 Pat2 PubMed: Salter 2016 - F - United Kingdom (Great Britain) - - 0 - - EDS see paper; ..., short stature, joint hypermobility, radioulnar synostosis, severe hypermetropia B4GALT7 B4GALT7 2 1 Johan den Dunnen
00301676 patient PubMed: Arunrut 2016 - F - United States - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Johan den Dunnen
00301677 patient PubMed: Mihalic Mosher 2019 2-generation family, 3 affected pregnancies, unaffected heterozygous carrier parents - - United States - - 0 - - EDS 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 B4GALT7 B4GALT7 2 1 Johan den Dunnen
00301678 patient PubMed: Ritelli 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Morocco - - 0 - - EDS 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 B4GALT7 B4GALT7 1 1 Johan den Dunnen
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