Features Listed For Aarskog Syndrom- McKusick: 305400


  • Brachydactyly
  • Broad hallux
  • Dysplastic ears
  • Enamel abnormalities
  • Finger webbing
  • Hyper-mobile/extensible fingers
  • Hypertelorism
  • Hypoplastic maxilla (excluding malar region)
  • Isolated growth hormone deficiency
  • Overriding scrotum
  • Palpebral fissures slant down
  • Perthe's/dysplastic hip
  • Ptosis of eyelids
  • Pulmonary stenosis
  • Stature/length short, proportionate
  • Skin syndactyly of fingers
  • Ventricular septal defect
  • Widow's peak

    • Chromosomes
    X,p,11

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