[MIM 231 080]

Extremely rare: described only in a few families, the majority of which were of Ashkenazi origin.

Autosomal recessive form of arthrogryposis combining:

• arthrogryposis
• hypotonia-hypokinesia, the probable cause of arthrogryposis: delayed psychomotor development, short stature, swallowing disorders, frequent respiratory infections
• facial dysmorphism: high forehead, carp mouth, cleft palate
• lymphedema

Significant morbidity-mortality. Death from chronic pulmonary cardiac disease as a result of congenital pulmonary lymphangiectasia (see this term).

Anesthetic implications:

hypotonia, check SpO2 at room air, difficult peripheral venous access.

References :

-        Lewin SO, Hughes HE. 
German syndrome in sibs. 
Am J Med Genet 1987 ; 26: 385-90.

Updated: October 2021