Special Note: There are two German Syndromes referenced in the internet. The other syndrome is in relation to birth defects caused by the administration of the anticonvulant trimethadione (also known as Tridione) or paramethadione to epileptic mothers during pregnancy. This is a non-genetic condition and is not related to the German Syndrome presented here.
Discussion: German syndrome is a very rare association hypotonia-hypokinesia sequence, involving arthrogryposis and lymphedema. Only five cases have been described so far. Three of the four known families with affected children were Ashkenazi Jews. One boy died at age 2 years of cor pulmonale; a girl was stillborn. An autosomal recessive inheritance is likely. .(1)
These symptoms may be caused by many other conditions, making diagnosis difficult to achieve.
As there is no known treatment to "cure" German Syndrome, any treatment involved would be for the symptoms or complications such as for treatment for the lymphedema.
May 28, 2008
Abstracts and Studies:
.................German syndrome in sibs.
Lewin and Hughes (1987) presented the cases of a male-female sib pair with 'arthrogryposis,' hypotonia-hypokinesia sequence, and lymphedema. The parents were Ashkenazi Jewish. The authors suggested that the condition in these sibs was the same as that described by German et al. (1975). The boy died at age 2 years of cor pulmonale; the girl was stillborn. This was the first instance of affected sibs. Three of the 4 known families with affected children have been Ashkenazi Jews.
Victor A. McKusick : 2/9/1987
carol : 7/15/1992
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
Copyright © 1966-2004 Johns Hopkins Universityhttp://omim.org/entry/231080
Classification and External Resources:
|Age of onset||Neonatal/infancy|
|ICD 10 code||-|
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