Caused by a recurrent activating change in SMO (p.Leu412Phe) that arises after conception, so only some cells carry it. SMO is part of the hedgehog signalling pathway that guides development.
Tünetek és jelek
Premature fusion of skull bones (such as unicoronal craniosynostosis), extra or fused fingers and toes, and patchy skin lesions are typical. Brain differences such as an absent corpus callosum, and eye anomalies such as coloboma or small eyes, are reported. Gut problems, including malrotation and smooth-muscle overgrowth that can cause blockage, also occur. Tumours of the skin or other tissues have also been reported.
Mit változtat a diagnózis
Care is tailored to the features present, including attention to bowel complications. Because the change is somatic and sporadic, the chance of recurrence in siblings is low.
Vizsgált gének
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Curry-Jones syndrome
- Happle-Tinschert syndrome
