X-linked intellectual disability, Stoll type

X-linked intellectual disability, Stoll type is a rare condition marked by intellectual disability, short stature, and distinctive facial features. The facial features include widely spaced eyes (hypertelorism), a prominent forehead, frontal bossing, a broad nasal tip, and anteverted nares. This condition has been reported in four males across three generations of one family, with two females in the same family also showing intellectual challenges and similar facial features.

The condition typically presents with intellectual disability, short stature, and characteristic facial features such as hypertelorism, prominent forehead, frontal bossing, a broad nasal tip, and anteverted nares. These signs are considered key features seen in people with this condition.

This condition is inherited in an X-linked manner, meaning the genetic change is located on the X chromosome. It appears in multiple members of a single family, affecting both males and, in some cases, females.

Treatment options and management approaches for this condition are not well established in the provided information.

Information about the long-term outlook and quality of life for people with this condition is currently limited.

Current research and future directions for understanding this condition are not detailed in the available information.