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Condition report · Musculoskeletal

Curry-Jones Syndrome (Mosaic SMO Syndrome)

A rare condition present from birth affecting the skull, skin, hands and feet, brain, eyes and gut. It is caused by a change in the SMO gene that is present in only some of the body's cells (mosaicism) and is not usually inherited.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

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.

Signs and symptoms

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.

What a diagnosis changes

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.

Genes analysed

Includes 2 related subtypes ↓
  • Curry-Jones syndrome
  • Happle-Tinschert syndrome
MONDO:1030005Sources: [1][2][3]

Limitations

  • The SMO change is present in varying amounts in different tissues, so a test on one sample type may miss it, and a negative result does not rule out the condition.

References

  1. Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J et al., 2017. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. American journal of human genetics
  2. Lovgren ML, Zhou Y, Hrčková G, Dallos T, Colmenero I, Twigg SRF et al., 2021. Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum. The British journal of dermatology
  3. Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW et al., 2017. Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. American journal of medical genetics. Part A

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