Keipert syndrome

Keipert syndrome is a rare condition that affects the development of many parts of the body. People with this condition are born with several differences in facial features and the structure of the bones. For example, they may have wide-set eyes (hypertelorism), a broad and high nasal bridge, a depressed nasal ridge, a short columella, and an underdeveloped upper jaw. In addition, there can be changes in the appearance of the lips, such as a prominent cupid-bow shape on the upper lip. This syndrome also involves hearing loss that can range from mild to severe and differences in the bones of the hands and feet. Some individuals may also have other features like narrowing of the pulmonary valve, a hoarse voice, or differences in kidney development. The condition is described as a multiple congenital anomalies syndrome, meaning it is present from birth and affects several body systems.

Common signs and symptoms of Keipert syndrome include distinctive facial features such as wide-set eyes and specific nose and lip appearances. Many people with this condition also experience congenital sensorineural hearing loss. In addition, skeletal differences are a major characteristic, with short fingers (brachytelephalangy), broad thumbs, and broad big toes that have large, rounded end parts known as epiphyses. Some individuals may also have heart-related features like pulmonary valve stenosis, a hoarse voice, or differences in kidney development.

Keipert syndrome is known to be linked to changes in the GPC4 gene. The syndrome is considered to follow an X-linked recessive pattern, which means that the gene alteration is located on the X chromosome. This pattern typically affects males more severely, but more research is needed to fully understand the genetic causes and mechanisms of the 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.