Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant 
disorder characterized by contractures of upper and lower limbs. It is 
distinguishable from other forms of distal arthrogryposis by cleft palate and 
short stature. Recently, Gordon syndrome has been associated to heterozygous 
mutations in the piezo-type mechanosensitive ion channel component 2 gene 
(PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 
5 and Marden-Walker syndrome. Dysfunction of this ion channel provides 
pleiotropic effects on joints, ocular muscles, and bone development. Here, we 
present a family with three affected individuals exhibiting multiple 
contractures (metacarpo-phalangeal and interphalangeal joints as well as elbow, 
shoulder, knee, and ankle joints), clubfeet, short stature, bifid uvula/cleft 
palate, and a distinct facial phenotype including ptosis. In addition, mild 
intellectual disability and delay in psychomotor development are obvious. The 
multigenerational phenotypic spectrum of Gordon syndrome is present in the 
37-year-old father, his 4-year-old son and a male neonate showing typical signs 
of arthrogryposis in the prenatal ultrasound examination already seen at 13 week 
of gestation. In all affected family members, we identified the PIEZO2 mutation 
c.8057G>A (p.Arg2686His) by Sanger sequencing. Our analysis indicated that mild 
delay in psychomotor development and intellectual disability could be part of 
the phenotypic spectrum of Gordon syndrome. © 2016 Wiley Periodicals, Inc.