Marden-Walker Syndrome is a rare condition that affects the connective tissue. It is one of the phenotypes associated with PIEZO2 mutations.
Chromosome location: 18p11
Gene affected: PIEZO2 (piezo type mechanosensitive ion channel component 2)
Inheritance: autosomal recessive, possibly autosomal dominant
Clinical features include:
(1) immobile facies
(2) blepharophimosis
(3) micrognathia
(4) microcephaly
(5) midfacial hypoplasia
(6) multiple joint contractures, including camptodactyly
(7) reduced muscle mass with hypotonia
(8) arachnodactyly
(9) mental retardation and developmental delay
(10) postnatal growth retardation with short stature
(11) cleft palate
(12) pectus
(13) kyphoscoliosis
(14) hypospadias
(15) variable absence deep tendon reflexes
