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Classical-like Ehlers-Danlos syndrome type 1

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Name:
Classical-like Ehlers-Danlos syndrome type 1
Description:
A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
ORPHAcode:
230839
Synonyms:
Classical-like EDS type 1
Ehlers-Danlos syndrome due to tenascin-X deficiency
clEDS type 1
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
TNXB
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14