Acrofacial dysostosis Preis type


One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.


  • Absent lashes
  • Decreased lashes
  • Absent ears
  • Small ears
  • Blepharophimosis
  • Short palpebral fissures
  • Broad nasal root
  • Absent collarbone
  • Abnormal collarbone
  • Upper limb deficiency
  • Upslanted fissures
  • Cleft palate
  • Exaggerated cupid bows
  • Flat cheek bones
  • Hand anomalies
  • High vaulted palate
  • Narrow palate
  • Absent humerus
  • Abnormal humerus
  • Small jaw
  • Recessed jaw
  • Premature birth
  • Fused forearm bones
  • Short neck
  • Skeletal anomalies
  • Stillbirth
  • Infant death
  • Webbed toes
  • Clubfoot
  • Telecanthus
  • Wrist anomalies


Parental diagnosis can be carried out by ultrasonography, while postnatal diagonis can be established, relying upon clinical and radiological features and with chromosome analysis in syndromal cases.