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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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)

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.
orphanet

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.

Clinical description
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
Etiology is unknown.

Genetic counseling
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 cleft lip and palate
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 syndactyly
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
Autosomal dominant inheritance
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.