Miniature Adult Form of AHC

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex.