Preferred Label : Ehlers-Danlos syndrome, kyphoscoliotic type;
ICD-11 definition : Ehlers-Danlos syndrome, kyphoscoliotic type is a type of Ehlers-Danlos syndromes (EDS),
a group of hereditary connective tissue diseases characterized by joint hyperlaxity,
cutaneous hyperelasticity and tissue fragility, and is characterized 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.;
ICD-11 synonym : Ehlers-Danlos syndrome type 6;
Origin ID : 1397391838;
Automatic exact mappings (from CISMeF team)
Ehlers-Danlos syndrome, kyphoscoliotic type is a type of Ehlers-Danlos syndromes (EDS),
a group of hereditary connective tissue diseases characterized by joint hyperlaxity,
cutaneous hyperelasticity and tissue fragility, and is characterized 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.
