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Condition report · Musculoskeletal

Carey-Fineman-Ziter Syndrome

A rare condition present from birth that causes weakness of the facial muscles, a small jaw with cleft palate, and muscle weakness. It is caused by changes in both copies of the MYMK gene, or more rarely MYMX, which help muscle cells fuse during development.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of MYMK (myomaker), and rarely MYMX (myomixer), proteins needed for muscle precursor cells to fuse into muscle fibres. Reduced fusion leads to a congenital myopathy.

Signs and symptoms

Marked facial weakness, with a small jaw and cleft palate (Pierre Robin sequence), and generalised low muscle tone and weakness are typical. Motor delay and short stature are also reported.

What a diagnosis changes

Care is tailored to the features present. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.

Genes analysed

Includes 2 related subtypes ↓
  • Carey-Fineman-Ziter syndrome 1
  • Carey-Fineman-Ziter syndrome 2
MONDO:0031415Orphanet 1358MedGen 338115Sources: [1][2][4][3]

References

  1. Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM et al., 2018. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature communications
  2. Dugdale HF, Levy Y, Jungbluth H, Oldfors A, Ochala J, 2024. Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome. Acta neuropathologica communications
  3. Hedberg-Oldfors C, Lindberg C, Oldfors A, 2022. Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. Neurology. Genetics
  4. Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC et al., 2022. Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome. The Journal of clinical investigation

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