Acromegaloid facial appearance syndrome

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.

Also known as: acromegaloid facial appearance syndrome, AFA syndrome, thick lips and oral mucosa

0 clinical trials for this condition and its sub-types, 0 tagged with Acromegaloid facial appearance syndrome itself.