" /> King Denborough syndrome - CISMeF





Preferred Label : King Denborough syndrome;

ICD-11 definition : Rare condition characterised by a susceptibility to malignant hyperthermia, delayed motor development, short stature, cryptorchidism, skeletal abnormalities, and variable dysmorphic features. Autosomal dominant inheritance with variable expressivity has been reported in several cases, although either recessive inheritance, mosaicism or highly variable penetrance have been described.;

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Rare condition characterised by a susceptibility to malignant hyperthermia, delayed motor development, short stature, cryptorchidism, skeletal abnormalities, and variable dysmorphic features. Autosomal dominant inheritance with variable expressivity has been reported in several cases, although either recessive inheritance, mosaicism or highly variable penetrance have been described.

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07/05/2025


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