Carey-Fineman-Ziter syndrome 1

Carey-Fineman-Ziter syndrome 1 is a rare condition that affects muscle tone and facial development. People with this condition have low muscle tone (hypotonia) and may show a combination of distinctive facial features. This syndrome includes a Moebius sequence, which means there is bilateral congenital facial palsy where eye movement can be affected, as well as a Pierre-Robin sequence that is characterized by a small lower jaw (micrognathia), tongue placement issues (glossoptosis), and a high-arched or cleft palate. Additionally, individuals may experience growth delays and an unusual facial appearance.

Common signs of Carey-Fineman-Ziter syndrome 1 include low muscle tone, difficulties with facial movements due to facial palsy, and challenges with eye movement. The presence of Pierre-Robin sequence features, such as a small jaw, tongue displacement, and a high-arched or cleft palate, are also observed. Growth delay is another notable symptom of this condition.

This condition is linked to changes in the MYMK gene. These genetic changes can affect muscle development and overall physical growth, leading to the features observed in Carey-Fineman-Ziter syndrome 1.

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.