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Disease Profile
Blepharo-cheilo-odontic 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.
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
Neonatal
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)
Blepharo-cheilo-dontic syndrome; Blepharocheilodontic syndrome; BCD syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1997
Definition
Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
Epidemiology
Prevalence is unknown. Over 50 cases have been described in literature to date.
Blepharo-cheilo-odontic syndrome is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly .
Etiology is unknown.
Transmission is autosomal dominant with 100% penetrance.
Visit the Orphanet disease page for more resources.
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
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Bilateral |
Right and left cleft lip and palate
|
0002744 |
| Distichiasis | 0009743 | |
| Ectropion of lower eyelids |
Lower eyelid turned out
|
0007651 |
| 30%-79% of people have these symptoms | ||
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
| Conical tooth |
Cone shaped tooth
Shark tooth
[ more ] |
0000698 |
| Euryblepharon | 0012905 | |
| Finger |
0006101 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| 5%-29% of people have these symptoms | ||
| Abnormal hair quantity | 0011362 | |
| Anal atresia |
Absent anus
|
0002023 |
| Epidermoid cyst |
Skin cyst
|
0200040 |
| 1%-4% of people have these symptoms | ||
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
| Cutaneous syndactyly | 0012725 | |
| High anterior hairline |
High frontal hairline
|
0009890 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Cleft upper lip |
Harelip
|
0000204 |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Flat face |
Flat facial shape
|
0012368 |
| High forehead | 0000348 | |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Neural tube defect | 0045005 | |
| Small nail |
Small nails
|
0001792 |
| Sparse hair | 0008070 | |
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
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Blepharo-cheilo-odontic syndrome. Click on the link to view a sample search on this topic.