FaCD Online Syndrome Fact Sheet

Last updated: 12 May 2009

Name: Curry-Jones syndrome

Mode of Inheritance: spor?/de novo AD?

OMIM number: 601707  

Tumor features

myofibroma of the large intestine

Tumor features (possible)

smooth muscle hamartoma of large intestine

Non-tumor features

corpus callosum agenesis
craniofacial dysmorphisms
developmental delay/mental deficiency/mental retardation
eye, coloboma of the
polydactyly, preaxial

Non-tumor features (possible)



Typical features of this rare syndrome are pre-axial polysyndactyly, craniosynostosis, absent corpus callosum, atrophic skin patches, colobomas or microphthalmia and large bowel myofibromas causing obstruction. Developmental delay is common. Only single cases in families have been reported so far.[1]
Grange et al[2] reported two patients with the syndrome who developed neoplasms. One patient was diagnosed with multiple intra-abdominal smooth muscle hamartomas at the age of nine months as well as two trichoblastomas of the skin at the age of 3 and 5 months, respectively. The second patient had congenital occipital meningoceles and was diagnosed with a desmoplastic medulloblastoma at the age of 17 months.


[1] Temple IK, Eccles DM, Winter RM, Baraitser M, Carr SB, Shortland D, Jones MC, Curry C. Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development-the Curry Jones syndrome. Clin Dysmorphol. 1995 Apr;4(2):116-29
[2] Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, Julian S, Lind A.Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.Am J Med Genet A. 2008 Oct 15;146A(20):2589-97.