Frias syndrome

Frias syndrome is a rare condition that results from a partial deletion on the long arm of chromosome 14. This genetic change can affect the development of several parts of the body. Often, people with this condition show unusual eye features, as well as changes in the pituitary gland which can lead to growth issues. In addition, hand and foot anomalies are common, including differences in the number and size of digits. Other features seen in people with Frias syndrome may include muscle weakness, delays in psychomotor development or intellectual challenges, and distinct facial features such as facial asymmetry and high-arched palate. Some individuals may also experience ear anomalies, hearing impairment, or congenital genitourinary issues. The severity and exact pattern of symptoms can vary, especially in cases with smaller deletions.

Common signs in people with Frias syndrome include eye abnormalities such as absent or small eyes (anopthalmia or microphthalmia), droopy eyelids (ptosis), wide-spaced eyes (hypertelorism), and protruding eyes (exophthalmos). They may have pituitary gland issues resulting in growth hormone deficiency and growth retardation. Hand and foot differences such as extra digits (polydactyly), short fingers or toes, and high-arched feet (pes cavus) are also described. Other symptoms include low muscle tone, developmental delays or intellectual challenges, facial asymmetry, jaw or palate anomalies, ear changes, and in some instances, genitourinary malformations and hearing problems.

Frias syndrome is caused by a missing part of chromosome 14, specifically in the region 14q22-q23. This chromosomal deletion can affect several genes, including the FRIASS gene. Changes in this region interfere with normal development, leading to the various clinical features seen in this condition.

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.