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Myhre syndrome
Other Resources UpToDate PubMed

Myhre syndrome

Contributors: John F. Cox III MD, FACP, Elizabeth M. Cox MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

Myhre syndrome is a rare genetic connective tissue disorder with multisystem involvement. One of at least four known mutations in the SMAD4 gene replaces an amino acid at protein position 496 or 500 with a different amino acid. Studies suggest that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer than needed, enhancing the activity of the SMAD4 protein, which may result in abnormal transforming growth factor beta (TGF-β) signaling in many cell types, affecting development of several parts of the body.

Associated restrictive cardiomyopathy can be rapidly progressive. Laryngotracheal stenosis can cause life-threatening complications. The risk appears to increase with age and usually presents in adolescence or young adulthood.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
699316006 – Myhre syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Molecular genetic testing can differentiate these disorders.
  • Weill-Marchesani syndrome – abnormalities of the lens of the eye
  • Acromicric dysplasia – characteristic metacarpal and femoral head abnormalities
  • Geleophysic dysplasia – characteristic facial appearance (''happy'' face)
  • Acromesomelic dysplasia – unusually short forearms and lower legs
  • Mulibrey nanism – shorter stature, small tongue
  • Turner syndrome
  • Stiff skin syndrome – thickened skin in the absence of other features of Myhre syndrome

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:11/15/2021
Last Updated:01/19/2022
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Myhre syndrome
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A medical illustration showing key findings of Myhre syndrome
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