tenascin-X deficiency

Genetics

• associated with defects in tenascin-X (TNXB)

Clinical manifestations

• Ehlers-Danlos-like syndrome
• hyperextensible skin, hypermobile joints, & tissue fragility
• absence of atrophic scars*
• delayed wound healing is only present in a subset of patients*

* distinguishing features from Ehlers-Danlos syndrome

Differential diagnosis

• Ehlers-Danlos syndrome

More general terms

• genetic disease of connective tissue

Database

• OMIM: https://mirror.omim.org/entry/606408