Learn About Culler Jones Syndrome

What is the definition of Culler Jones Syndrome?
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 in the GLI2 gene. Inheritance is autosomal dominant. Genetic changes 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.
Save information for later
Sign Up
Who are the top Culler Jones Syndrome Local Doctors?
Learn about our expert tiers
Learn more
What are the latest Culler Jones Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Culler Jones Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.