postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0018762
non-acquired combined pituitary hormone deficiency
is_a
MONDO:0019054
congenital limb malformation
is_a
CJS
related
Culler-Jones syndrome
related
Pallister-Hall syndrome 2
related