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Disease Profile

Culler-Jones syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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.

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

Learn more

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.

References

  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; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420584.