X-linked lethal multiple pterygium syndrome

What is X-linked lethal multiple pterygium syndrome?

X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.

Inheritance type

X-linked dominant, X-linked recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.