Renpenning syndrome

Disease Overview

Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. [10541][1578] Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. [10541][1578][1579] Management involves early intervention by trained therapists along with treatment of any associated features. [1578]

Synonyms

• Sutherland-Haan X-linked intellectual disability syndrome
• X-linked intellectual disability with spastic diplegia
• MRXS3
• MRXS8
• Sutherland-Haan syndrome
• X-linked intellectual disability due to PQBP1 mutations