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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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X-linked lethal multiple pterygium syndrome?
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