Myhre syndrome in Adult
Alerts and Notices
Synopsis

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
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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
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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
Last Updated:01/19/2022