X-linked intellectual disability-plagiocephaly syndrome

X-linked intellectual disability-plagiocephaly syndrome is a rare genetic condition. It is characterized by a severe intellectual deficit along with craniofacial features such as brachycephaly, plagiocephaly, a prominent forehead, and coarse facial features. This condition has been described in two males from one family who show these significant features. In the same family, two females have been noted to display a more moderate form of intellectual disability without the craniofacial dysmorphism seen in affected males. This difference in symptoms between males and females is consistent with the condition being X-linked. The available descriptions help in understanding the variability and impact of the syndrome in different individuals.

People with this condition may show severe intellectual disability along with specific facial and skull features such as brachycephaly (short head), plagiocephaly (asymmetrical head shape), a prominent forehead, and coarse facial features. In some cases, females may have a moderate intellectual disability without the noticeable craniofacial changes.

The syndrome is described as X-linked, suggesting that the genetic cause is related to genes on the X chromosome. However, specific genes have not been identified yet. The way the condition presents differently in males and females supports the idea of an X-linked pattern of inheritance.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.