Armfield syndrome

Armfield syndrome is a condition that affects intellectual development and physical growth. People with this condition may have intellectual disability, short stature, and seizures. It has been described in several males across three generations in one family. In some affected individuals, additional features such as small hands and feet have been observed. Some of the affected individuals in the family also experienced vision issues like cataracts or glaucoma and facial differences such as a cleft palate. The condition is linked to a region on the X chromosome, specifically the terminal 8 Mb of Xq28, and is considered an X-linked disorder.

Common symptoms of Armfield syndrome include intellectual disability, short stature, seizures, and the presence of small hands and feet. In some cases, people with this condition have also experienced vision problems including cataracts and glaucoma, as well as cleft palate.

Armfield syndrome is caused by genetic changes linked to the X chromosome. It has been mapped to the terminal 8 Mb of Xq28, and alterations in the FAM50A gene have been associated with the condition. This means that the condition is inherited in an X-linked manner, which typically affects males more severely.

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.