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GENATLAS PHENOTYPE
last update : 21-09-2011
Symbol ACMICD
Location 15q21.1
Name acromicric dysplasia
Corresponding gene FBN1
Main clinical features
  • Short stature with small hands and feet, pseudomuscular build
  • Round face, short palpebral fissures, long philtrum with small mouth and thick lips
  • Hoarse voice
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    connective tissue
    Type disease
    Gene product
    Name fibrillin 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function heterozygous mutation located in exons 41 -42
    Remark(s)
  • exons 41-42 encode TGFbeta -binding protein-like domain 5
  • disruption of interaction with ADAMTSL2