cerebrooculofacioskeletal syndrome 3

Cerebrooculofacioskeletal syndrome 3 is a congenital condition that affects multiple systems, including the brain, eyes, face, and skeletal structures. It is characterized by distinctive physical features such as a small head size (microcephaly) and joint contractures (arthrogryposis multiplex congenita), along with decreased fetal movement recognized from birth. The condition is caused by variants in the ERCC5 gene and follows an autosomal recessive inheritance pattern, meaning that both parents carry a copy of the altered gene. Precise prevalence estimates are not well established, and not all individuals present with every possible feature.

Individuals with cerebrooculofacioskeletal syndrome 3 commonly present with microcephaly, arthrogryposis multiplex congenita, and decreased fetal movement, all of which are consistently observed. Other features that may be observed include low-set ears, a small lower jaw (micrognathia), clubfoot (talipes equinovarus), rocker bottom feet, and abnormalities on brain imaging such as ventriculomegaly. Less common findings can include cleft palate, posterior fossa cysts, small eyes (microphthalmia), underdevelopment of the cerebellum, and absence of the corpus callosum. Not all individuals experience all features, and severity varies considerably.

Cerebrooculofacioskeletal syndrome 3 is caused by pathogenic variants in the ERCC5 gene. Although specific details regarding the protein function are not provided in this summary, ERCC5 is the only gene implicated in this condition and plays a critical role in its development. The condition is inherited in an autosomal recessive pattern, which means that an affected individual inherits one altered copy of the gene from each parent. As a result, each sibling of an affected individual has a 25% chance of being affected, while parents are typically asymptomatic carriers.

Currently, management focuses on supportive care and symptom management, as there are no specific treatments approved for cerebrooculofacioskeletal syndrome 3. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include specialists in neurology, orthopedics, and developmental care. In addition, genetic counseling is recommended to help families understand the inherited nature of the condition and to assist with family planning. Patients should discuss treatment options with their healthcare team to determine which supportive therapies may be most appropriate for their unique situation.

The long-term outlook for individuals with cerebrooculofacioskeletal syndrome 3 varies widely, with outcomes largely dependent on the severity of the congenital anomalies and the quality of supportive care received. With current standards of care, many individuals benefit from improvements in symptom management and multidisciplinary care, although the condition can follow a complex and variable course. Outcomes described in medical literature continue to evolve as standards of care improve, and that severity and symptoms vary widely between individuals. Families are encouraged to connect with genetic counselors and specialists experienced in managing complex congenital conditions for further guidance.