Ehlers-Danlos syndrome, kyphoscoliotic type (Q101868): Difference between revisions
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A síndrome de Ehlers-Danlos, tipo cifoescoliótico é um tipo de síndrome de Ehlers-Danlos (SED), um grupo de doenças hereditárias do tecido conjuntivo caracterizadas por hiperfrouxidão articular, hiperelasticidade cutânea e fragilidade do tecido, e é caracterizada desde o nascimento por escoliose congênita progressiva, hipotonia muscular grave, hiperextensibilidade de todas as articulações e globos oculares frágeis. A fragilidade ocular pode causar hemorragia retiniana, glaucoma, coloração da esclera ou mesmo ruptura do globo ocular. | |||
| description / en | description / en | ||
Ehlers-Danlos syndrome, kyphoscoliotic type is a type of Ehlers-Danlos syndromes (EDS), a group of hereditary connective tissue diseases characterised by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility, and is characterised from birth onwards by progressive congenital scoliosis, severe muscle hypotonia, hyperextensibility of all joints, and fragile eyeballs. Ocular fragility can lead to retinal haemorrhage, glaucoma, sclera coloration, or even rupture of the ocular globe. | |||
Revision as of 18:42, 16 August 2026
Ehlers-Danlos syndrome, kyphoscoliotic type is a type of Ehlers-Danlos syndromes (EDS), a group of hereditary connective tissue diseases characterised by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility, and is characterised from birth onwards by progressive congenital scoliosis, severe muscle hypotonia, hyperextensibility of all joints, and fragile eyeballs. Ocular fragility can lead to retinal haemorrhage, glaucoma, sclera coloration, or even rupture of the ocular globe.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1397391838 |
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| English | Ehlers-Danlos syndrome, kyphoscoliotic type |
Ehlers-Danlos syndrome, kyphoscoliotic type is a type of Ehlers-Danlos syndromes (EDS), a group of hereditary connective tissue diseases characterised by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility, and is characterised from birth onwards by progressive congenital scoliosis, severe muscle hypotonia, hyperextensibility of all joints, and fragile eyeballs. Ocular fragility can lead to retinal haemorrhage, glaucoma, sclera coloration, or even rupture of the ocular globe. |
