Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Synonyms: Culler-Jones syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare genetic developmental defect during embryogenesis disorder 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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