A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis) a mask-like face with blepharophimosis micrognathia high-arched or cleft palate low-set ears decreased muscular bulk kyphoscoliosis and arachnodactyly.
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 June 2022.