Acrofacial dysostosis Palagonia type

Synonyms

4

Overview

One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.

Symptoms

  • Ectropion
  • High forehead
  • Abnormal dental position
  • Absent lashes
  • Delayed bone age
  • Short stature
  • Small hand
  • Depressed premaxillary region
  • Lateral thinning of eyebrows
  • Long nose
  • Large nose
  • Bulbous nose
  • Recessed jaw
  • Posterior angulation of ears
  • Scoliosis
  • Short fourth metacarpal
  • Webbed fingers
  • Abnormal vertebral size
  • Decreased lashes
  • Total absence of teeth
  • Missing teeth
  • Abnormal vertebral shape
  • Absent eyebrows
  • Decreased eyebrows
  • Broad forehead
  • Low frontal hair line
  • Low set ears
  • Small jaw
  • Short neck
  • Sparse scalp hair
  • Absent scalp hair
  • Extra teeth
  • Abnormality of the eyelashes
  • Abnormality of the metacarpal bones
  • Delayed skeletal maturation
  • Low anterior hairline
  • Low-set, posteriorly rotated ears
  • Malar flattening
  • Reduced number of teeth
  • Short palm
  • Short stature

Resources

  • NIH