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German syndrome
Disease definition
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.
ORPHA:2077
Classification level: Disorder- Synonym(s):
- Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal
- ICD-10: Q87.8
- OMIM: 231080
- UMLS: C3887495
- MeSH: C562543
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2014) Nederlands (2014) Deutsch (2005) Français (2005) Italiano (2005)
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