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Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers (polydactyly) and unusual facial features. Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature, delayed bone age, diabetes insipidus, slowed growth and sexual development, undescended testis (cryptorchidism) and small penis (hypogonadotropic hypogonadism). Facial features include eyes that appear very close together (hypotelorism), cleft palate and cleft lip and a flat nose. The extra digits are usually located on the outside of the little fingers (post-axial polydactyly). Brain imaging may show a small anterior pituitary gland.
Culler-Jones syndrome is caused by changes (mutations) in the GLI2 gene. Inheritance is autosomal dominant. Treatment may include replacement of the hormones that are lacking due to the hypopituitarism, and surgery to correct the extra digits and the facial defects.
Mutations in the GLI2 gene can also cause a different condition known as holoprosencephaly-9 (HPE9) which is much more severe. That condition is characterized by a single-lobed brain structure and severe skull and facial defects.
Source: GARD Last updated on 05-01-20
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