has material basis in germline mutation in SMO Curry-Jones syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome https://www.malacards.org/card/curry_jones_syndrome_2 corpus callosum agenesis-polysyndactyly syndrome Orphanet:1553 Curry-Jones syndrome, somatic mosaic MEDGEN:167083 CRJS UMLS:C0795915 corpus callosum agenesis polysyndactyly OMIM:601707 curry-Jones syndrome MESH:C536735 MONDO:0011134 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. GARD:0005584 curry Jones syndrome SCTID:720819006 syndromic craniosynostosis mosaic SMO syndrome