X-linked Ehlers-Danlos syndrome
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.
MONDO:0000425
X-linked disease
is_a
MONDO:0020066
Ehlers-Danlos syndrome
is_a
EDS V
exact
EDS5
related
Ehlers-Danlos syndrome type 5
exact
Ehlers-Danlos syndrome, X-linked
exact