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GENATLAS PHENOTYPE
last update : 16-03-2013
Symbol MDMHB
Location 6p21.1
Name metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
Corresponding gene RUNX2
Main clinical features
  • metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth
  • beaked nose, short philtrum, thin lips, maxillary hypoplasia, 'dystrophic' yellowish teeth with early loss and short metacarpal 5 and/or short middle phalanx
  • mild short stature, enlargement of the medial halves of the clavicles, wide ischial and pubic bones, mild thickening of frontal and parietal skull bones, platyspondyly, and a general radiographic impression of osteoporosis
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    duplication   abnormal protein/gain of function duplication of exons 3 to 5 leads to a gain of function in RUNX2, which may result from increased cellular levels of mutated RUNX2 protein (PMID: 23290074)
    Remark(s)