Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe.

Acronym

EDSKSCL1

Synonyms

EDS6
EDS6A
EDS VI
EDS VIA
Ehlers-Danlos syndrome 6
Ehlers-Danlos syndrome kyphoscoliotic type
Ehlers-Danlos syndrome oculoscoliotic type
Nevo syndrome

Keywords

Ehlers-Danlos syndrome

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again