Curry-Jones syndrome

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Curry-Jones syndrome

Synonyms: Corpus callosum agenesis-polysyndactyly 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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