syndromic disease German syndrome https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/german_syndrome OMIM:231080 MONDO:0009272 German syndrome SCTID:733037000 MEDGEN:854357 Orphanet:2077 MESH:C562543 UMLS:C3887495 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. fetal trimethadione syndrome primary lymphedema