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.
MONDO:0015338
syndromic craniosynostosis
is_a
MONDO:1030005
mosaic SMO syndrome
is_a
CRJS
related
Curry-Jones syndrome, somatic mosaic
exact
corpus callosum agenesis polysyndactyly
related
corpus callosum agenesis-polysyndactyly syndrome
exact
curry Jones syndrome
related
curry-Jones syndrome
exact