National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Culler-Jones syndrome

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Other Names:
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Categories:
Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers (polydactyly) and unusual facial features.[1]  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).[2][3][1] Brain imaging may show a small anterior pituitary gland.[1][4]

Culler-Jones syndrome is caused by changes (mutations) in the GLI2 gene. Inheritance is autosomal dominant.[1][4] 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.[2]

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.[1]
Last updated: 10/21/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Diabetes insipidus 0000873
Global developmental delay 0001263
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Postaxial polydactyly 0100259
Percent of people who have these symptoms is not available through HPO
Anterior pituitary hypoplasia
Underdeveloped pituitary gland
0010627
Autosomal dominant inheritance 0000006
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Ectopic posterior pituitary 0011755
Hypogonadism
Decreased activity of gonads
0000135
Hypopituitarism 0040075
Incomplete penetrance 0003829
Micropenis
Short penis
Small penis
[ more ] 		0000054
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Variable expressivity 0003828
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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  1. Culler-Jones syndrome. OMIM. 2015; https://www.omim.org/entry/615849.
  2. Bear KA, Solomon B D, Antonini S & cols. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.. J. Med. Genet. 2014; 51:413-418. https://www.ncbi.nlm.nih.gov/pubmed/2474443.
  3. Bertolacini CDP, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A & Murray J C. Clinical findings in patients with GLI2 mutations--phenotypic variability. Clin. Genet. 2012; 81:70-75. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135662/.
  4. Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.. Orphanet. 2017; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420584.