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German syndrome


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.

Synonyms: none

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)


Very Frequent:



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.

Pat O'Connor

May 28, 2008


Abstracts and Studies:


German syndrome in sibs.

Lewin SO, Hughes HE.

We present a male-female sib pair born to Ashkenazi Jewish parents with "arthrogryposis," hypotonia-hypokinesia sequence and lymphedema. Of all the "arthrogryposis" hypotonia syndromes, the condition in these sibs appears to be most like that of the patients of German et al [1975] and the patient of Salmon [1978]. They appear to be the first sib pair with German syndrome, which suggests autosomal recessive inheritance. Three of the four known families with affected children have been Ashkenazi Jews.

Publication Types:

PMID: 3812590 [PubMed - indexed for MEDLINE]


231080 Links


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. 30 MEDLINE Neighbors


1. German, J.; Morillo-Cucci, A.; Simpson, J. L.; Chaganti, R. S. K. :
Generalized dysmorphia of a similar type in 2 unrelated babies. Birth Defects Orig. Art. Ser. XI(2): 34-38, 1975.
2. Lewin, S. O.; Hughes, H. E. :
German syndrome in sibs. Am. J. Med. Genet. 26: 385-390, 1987.
PubMed ID : 3812590


Victor A. McKusick : 2/9/1987


mimadm : 2/19/1994
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 University



Orhpanet (1)


Classification and External Resources:


Orpha number ORPHA2077
Prevalence Exceptional
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number


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