Culler-Jones syndrome

Other Names: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers (polydactyly) and unusual facial features.

Cause

Culler-Jones syndrome is caused by changes (mutations) in the GLI2 gene.

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.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Inheritance is autosomal dominant.

Signs and symptoms

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).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 5%-29% of people have these symptoms

• Cleft palate(Cleft roof of mouth)
• Cleft upper lip(Harelip)
• Diabetes insipidus
• Global developmental delay
• Hypotelorism(Abnormally close eyes)
• Midface retrusion(Decreased size of midface)
• Postaxial polydactyly

Diagnosis

Brain imaging may show a small anterior pituitary gland.

Molecular Genetics Tests include:

• Deletion/duplication analysis
• Sequence analysis of select exons
• Sequence analysis of the entire coding region
• Targeted variant analysis

Treatment

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.

NIH genetic and rare disease info

• NIH info on Culler-Jones syndrome

Culler-Jones syndrome is a rare disease.

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