[MIM 263 650]

Lethal form of the popliteal pterygium syndrome (see this term).

Autosomal recessive transmission of a mutation of the RIPK4 gene. 

Associated anomalies:

-         presence of skin webs at the level of at least one large joint

-         cleft lip and/or palate,  syndactyly

-         genital hypoplasia

-         ankyloblepharon

-         syngnathy

-         ectodermal anomalies: alopecia, absence of eyelashes and eyebrows, fragile nails

       

Updated: November 2019