There are 3 main syndromic phenotypes associated with PIEZO2 mutations. McMillan et al studied the overlap between these phenotypes that result in intermediate expressions. The authors are from multiple institutions from around the world.
Chromosome location: 18p11
Gene affected: PIEZO2 (piezo type mechanosensitive ion channel component 2)
Key phenotypic syndromes:
(1) Gordon Syndrome (GS)
(2) Marden-Walker Syndrome (MWS)
(3) distal arthrogryposis Type 5 (DA5)
General phenotypic features of a PIEZO2 mutation:
(1) short stature
(2) curved fingers with straight thumbs
(3) congenital foot abnormalities (contractures, "sandal gap" with increased spacing between first and second toes)
Syndrome
"Key Distinguishing Feature"
Gordon Syndrome
cleft palate
Marden-Walker Syndrome
cerebellar malformation
Distal Arthrogryposis Type 5
ophthalmoplegia
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