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GTR Home > Conditions/Phenotypes > Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Synonyms
Culler-Jones syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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. [from ORDO]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CJS, HPE9, PHS2, THP1, THP2, GLI2
    Summary: GLI family zinc finger 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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