Acromegaloid facial appearance syndrome

Synonyms

AFA syndrome
Thick lips and oral mucosa

Overview

It is a very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency.

Symptoms

  • Thick lips
  • Prominent rugae of inside of mouth
  • Prominent frenula inside mouth
  • Blepharophimosis
  • Highly arched eyebrows
  • Bulbous nose
  • Large hands
  • Abnormal nasal morphology
  • Abnormality of the nasal alae
  • Abnormality of the tongue
  • Blepharophimosis
  • Coarse facial features
  • Gingival overgrowth
  • Hypertelorism
  • Joint hypermobility
  • Palpebral edema
  • Thick lower lip vermilion

Resources

  • NIH