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Acromegaloid facial appearance syndrome

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Alternate names

AFA syndrome; Thick lips and oral mucosa

Definition

A rare 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.

NIH genetic and rare disease info

Acromegaloid facial appearance syndrome is a rare disease.


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