Atkin-Flaitz syndrome

Atkin-Flaitz syndrome is a rare condition that is inherited in an X-linked pattern. It is characterized by moderate to severe intellectual disability, short stature, an unusually large head (macrocephaly), and distinctive facial features. In males, additional features include postpubertal macroorchidism, meaning that the testicles become larger after puberty. This syndrome has been noted in a small number of individuals in a single family, affecting 11 males and three females over three generations. The pattern of hereditary transmission indicates that the condition impacts males more noticeably, with females also affected although they may display different or less severe symptoms.

People with Atkin-Flaitz syndrome often experience moderate to severe intellectual disability. They may also have short stature, a large head, and distinctive facial features. In affected males, the condition can include the development of enlarged testicles after puberty (macroorchidism).

Atkin-Flaitz syndrome is transmitted in an X-linked manner, meaning that the gene related to this condition is located on the X chromosome. Although the pattern of inheritance is clear, specific genetic mutations or genes responsible for this syndrome have not been identified.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.