Ehlers-Danlos syndrome, kyphoscoliotic type (Q101868)
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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. |
