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.

Also known as: CJS, Culler-Jones syndrome, Pallister-Hall syndrome 2, Pallister-Hall syndrome 2, formerly

1 clinical trial for this condition and its sub-types, 0 tagged with Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome itself.