IFAP syndrome 1, with or without BRESHECK syndrome

IFAP syndrome 1, with or without BRESHECK syndrome is an X-linked condition that affects many parts of the body. It is best known for a classic trio of features: ichthyosis follicularis (a skin condition with scaly patches), atrichia (absence of hair), and photophobia (sensitivity to light). In some cases, people with this condition may also have additional features such as brain anomalies, intellectual delays, eye changes like corneal opacifications, and other structural differences including malformations of the vertebrae. The combination of these extra features is referred to as BRESHECK syndrome. The severity and specific features can vary among those affected.

People with IFAP syndrome typically show signs of ichthyosis follicularis, atrichia, and photophobia. Other possible features include intellectual challenges, brain anomalies, Hirschsprung disease, eye changes, kidney dysplasia, and skeletal malformations. These symptoms vary in how they are expressed from one person to another.

IFAP syndrome is caused by genetic changes and follows an X-linked pattern. A known gene linked to this condition is MBTPS2. Changes in this gene affect various systems in the body, which can lead to the range of symptoms observed in the syndrome.

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.