Curry-Jones syndrome

Curry-Jones syndrome (CJS) is an extremely rare multisystem disorder characterized by a distinctive combination of congenital anomalies including craniosynostosis (premature fusion of skull bones), agenesis of the corpus callosum (absence of the structure connecting the brain's hemispheres), polysyndactyly (extra and fused fingers or toes), and skin abnormalities. The condition was first described in 1987 and has been linked to postzygotic (somatic) mosaic mutations in the SMO gene, which encodes the Smoothened protein involved in the Hedgehog signaling pathway. Because the mutation arises after conception and is present in only some cells of the body, the condition occurs sporadically and is not inherited from parents. Key clinical features affect multiple body systems. Craniofacial abnormalities include craniosynostosis, colobomas of the eye (gaps in eye structures), and distinctive facial features. Neurological findings include corpus callosum abnormalities and intellectual disability of variable severity. Limb anomalies typically involve preaxial polysyndactyly, and characteristic skin findings include patchy areas of abnormal skin with an unusual texture, often described as having a distinctive pattern. Intestinal malformations and myxomas (benign soft tissue tumors) have also been reported. Some patients may develop medulloblastoma, a type of brain tumor, highlighting the importance of ongoing surveillance. There is no cure for Curry-Jones syndrome, and management is supportive and symptom-directed. Treatment typically involves a multidisciplinary team including neurosurgeons for craniosynostosis repair, ophthalmologists for eye abnormalities, orthopedic surgeons for limb anomalies, and neurologists for developmental monitoring. Tumor surveillance, particularly for medulloblastoma, is an important component of long-term care. Genetic counseling is recommended for affected families, though recurrence risk is very low given the somatic mosaic nature of the condition.

Common questions about Curry-Jones syndrome