Acromegaloid facies syndrome Q87.0

Autosomal-dominant or autosomal-recessive inherited dysplasia syndrome that combines synophrys (mono eyebrows) with typical acromegaloid facial features

Clinically are:

• Thickening of the lip and oral mucosa
• increased frequency of tongues
• Acromegaloid appearance of the face
• progressive increase in thickness of the nose, lips
• Thickening of the skin around the eyelids with narrowing of the eyelid crevices
• Synophrys
• large hands with pasty consistency of the skin and overstretchable metacarpophalangeal joints and interphalangeal joints

Prevalence: <1 / 1 000 000

1. Dallapiccola B et al (1992) Acromegaloid facial appearance (AFA) syndrome: report of a second family. J Med Genet 29: 419-422.
2. da-Silva EO et al (1998) A new case of the acromegaloid facial appearance syndrome? Clin Dysmorphol 7:75-76.
3. Hughes H E et al (1985) An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. J. Med. Genet 22: 119-125.
4. Kini U et al (2004) Acromegaloid facial appearance syndrome: a further case report. Clin Dysmorph 13: 251-253