Synonyms: Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome
German syndrome is an autosomal recessive arthrogryposis syndrome described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis hypotonia-hypokinesia sequence and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ”carp”-shaped mouth cleft palate) contractures severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature hypotonia frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987.
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 December 2023
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