JACKSON-WEISS SYNDROME

SYMPTOMS

Symptoms of Jackson-Weiss Syndrome include:

• Foot Abnormalities: Individuals with JWS typically have abnormalities in the bones of the feet, such as unusually large or misshapen big toes (hallux), and fusing of certain toe bones (tarsal bones). These foot abnormalities can lead to problems with walking, balance, and wearing shoes comfortably.
• Craniofacial Abnormalities: Some individuals with JWS may have craniofacial abnormalities, including premature fusion of the skull bones (craniosynostosis), leading to an abnormally shaped head and face. Other features may include a prominent forehead, widely spaced eyes (ocular hypertelorism), and a flat nasal bridge.
• Other Skeletal Abnormalities: In addition to foot and craniofacial abnormalities, individuals with JWS may have other skeletal anomalies, such as shortened fingers or toes (brachydactyly) and fusion of certain bones in the hands or feet (syndactyly).
• Hearing Loss: Some individuals with JWS may experience sensorineural hearing loss, which can vary in severity and may require intervention such as hearing aids.

DIAGNOSIS

Diagnosing Jackson-Weiss Syndrome typically involves a combination of clinical evaluation, imaging studies, and genetic testing. A healthcare provider may suspect JWS based on the presence of characteristic skeletal abnormalities and craniofacial features.

Imaging studies such as X-rays or CT scans may be performed to assess the extent of skeletal abnormalities and aid in diagnosis. Genetic testing, including sequencing of the FGFR2 gene, can confirm the diagnosis of JWS and identify the specific genetic mutation responsible for the condition.

TREATMENT

Treatment for Jackson-Weiss Syndrome is typically focused on managing symptoms and complications associated with the syndrome. Treatment options may include:

• Orthopedic Interventions: Orthopedic interventions may be recommended to address foot abnormalities and improve mobility and function. This may include custom-made orthotic devices, corrective shoes, or surgical procedures to correct skeletal deformities.
• Craniofacial Surgery: In individuals with craniofacial abnormalities such as craniosynostosis, surgical intervention may be necessary to relieve pressure on the brain and reshape the skull.
• Hearing Evaluation and Management: Regular hearing evaluations are important to monitor for hearing loss, and interventions such as hearing aids may be recommended if hearing impairment is detected.
• Multidisciplinary Care: Management of Jackson-Weiss Syndrome often involves a multidisciplinary team of healthcare professionals, including orthopedic surgeons, craniofacial surgeons, geneticists, audiologists, and other specialists. This team approach ensures comprehensive care tailored to the individual needs of each patient.