Curry-Jones syndrome

Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

Also known as: Curry-Jones syndrome, somatic mosaic, corpus callosum agenesis-polysyndactyly syndrome, curry-Jones syndrome, CRJS, corpus callosum agenesis polysyndactyly, craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development, curry Jones syndrome, curry-JONES syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Curry-Jones syndrome itself.