[MIM 601 707]

Extremely rare: a few reported patients. Unknown mode of transmission. Form of syndromic craniosynostosis where cranio-facial anomalies (coronal or multiple craniosynostosis), are associated with a polysyndactyly and cutaneous and digestive abnormalities.

Clinical elements:

-        an asymmetrical face, due to unilateral craniosynostosis with hypoplasia of the base of the skull on the same side

-        hypertelorism and narrow palpebral fissures

-        a partial or total absence of the corpus callosum

-        preaxial polydactyly of the hands and feet with syndactyly,

-        often linear skin anomalies (following the lines of Blaschko): beaded wittish lesions that are evolving into varying areas of atrophy or hypopigmentation (sebaceous or epidermic nevi); areas of abnormal proliferation of hair (cheeks, periocular region, limbs); trichoblastoma (small benign tumours of the hair bulb)

-        moderate mental retardation

-        sometimes: multiple gastrointestinal myofibromata (leading to dysmotility, bleeding, occlusion), iris coloboma, microphthalmia, desmoplastic medulloblastoma, encephalocele

Anesthetic implications:

facial asymmetry could cause difficult ventilation by mask or intubation

References : 

-        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 Part A 2008; !146A:2589–2597.

Updated: September 2019