Classical-like Ehlers-Danlos syndrome type 1

Orpha code: 230839OMIM code: 606408

Definition

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, and acrogeric skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

Disease data
Classification

Disease

Synonyms
Classical-like EDS type 1
EDS, typ podobny do klasycznego
Zespół Ehlersa i Danlosa, typ podobny do klasycznego
Ehlers-Danlos syndrome due to tenascin-X deficiency
clEDS type 1
ORPHA code
230839
OMIM code
606408
ICD10 code
Q79.6
ICD11 code
-

No additional description.

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