Filippi syndrome

Filippi syndrome is a very rare condition that affects many parts of the body. It is known for a smaller head size (microcephaly) and differences in the hands and feet, where the skin between the fingers and toes may be joined (cutaneous syndactyly). People with this syndrome also often have a distinct facial appearance that can include a high and broad nasal bridge, thin alae nasi, a small lower jaw (micrognathia), and a high frontal hairline. Growth delays and intellectual challenges are also features of the condition. Only a few cases have been reported worldwide, and some individuals may have additional signs such as undescended testicles (cryptorchidism), extra fingers or toes (polydactyly), or variations in teeth and hair. Filippi syndrome is passed down in an autosomal recessive pattern, which means a child needs to inherit a copy of the changed gene from each parent to develop the condition.

People with Filippi syndrome often show a small head, cutaneous syndactyly (where the skin of fingers and toes is joined), growth delays, and challenges with intellectual development. They usually have a distinct facial look that includes a high and broad nasal bridge, thin nasal wings, a smaller lower jaw, and a high hairline. In addition, some individuals may experience undescended testicles, extra fingers or toes, and differences in the appearance of their hair or teeth.

Filippi syndrome is caused by changes in the CKAP2L gene. The condition is inherited in an autosomal recessive manner, meaning a person must receive a gene change from each parent. This genetic change is linked to the development of the features seen in this condition.

Information about treatment options 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.