Curry–Jones syndrome

Curry–Jones syndrome is a rare genetic disorder characterized by congenital brain, osseous, cutaneous, ocular, and intestinal anomalies.

Individuals with this condition usually have the following symptoms:^[1]

• One-sided coronal craniosynostosis
• Multiple suture synostosis
• Agenesis of the corpus callosum that can either be complete or partial
• Polysyndactyly, preaxial type
• Hand/foot syndactyly
• Pearl-white areas in the skin that are prone to scarring and suffer from atrophy
• Eye, cheek, and limb hair growth abnormalities
• Iris coloboma
• Microphthalmia
• Congenital short gut
• Intestinal malrotation
• Dysmotility
• Chronic constipation
• Intestinal bleeding
• Myofibroma

Some individuals may also display the following features:

• Developmental delays
• Variable intellectual disability
• Intra-abdominal smooth muscle hamartomas
• Skin trichoblastoma
• Occipital meningoceles
• Desmoplastic medulloblastoma

This condition is caused by mosaic missense mutations in the SMO gene on chromosome 7. The causative mutation is typically present in less than 50% of an individual's body tissues. It is suggested that the mutation occurs post-zygotically during early embryonic development.^[2]

Management of Curry–Jones syndrome depends on an individual's symptom profile.

Curry–Jones syndrome has been described in 13 people worldwide.^{[2][3][4][5][6][7]}

The first case of Curry–Jones syndrome was reported by Cynthia J.R. Curry et al. at the 1987 David W. Smith Workshop on Malformations and Morphogenesis. A similar patient was reported by M.C. Jones.^[8] By 1988, it was recognized by the name of Curry–Jones syndrome.^[9]