Rare Pulmonology News
Disease Profile
Culler-Jones syndrome
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases
Summary
Culler-Jones
Culler-Jones syndrome is caused by changes (
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 roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Diabetes insipidus | 0000873 | |
| Global |
0001263 | |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Postaxial |
0100259 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
| 0000006 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Ectopic posterior pituitary | 0011755 | |
|
Decreased activity of gonads
|
0000135 | |
| Hypopituitarism | 0040075 | |
| 0003829 | ||
| Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| 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
- Culler-Jones syndrome. OMIM. 2015; https://www.omim.org/entry/615849.
- 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.
- 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/.
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.. Orphanet. 2017; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420584.