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GENATLAS PHENOTYPE
last update : 03-06-2009
Symbol MAND1
Location 20q13.12
Name metaphyseal anadysplasia 1
Corresponding gene MMP9
Main clinical features
  • skeletal dysplasia characterized by severe skeletal changes that, in contrast with the progressive course of most other skeletal dysplasias, resolve spontaneously with age
  • radiographic examination demonstrated extensive metaphyseal widening and fraying in all cases
  • a normal stature in adolescence and improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)