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

Bixler Christian Gorlin syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2213

Definition
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.

Epidemiology
Nine cases have been reported in the literature in seven families.

Clinical description
Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common.

Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonographic monitoring.

Genetic counseling
The reported cases support autosomal recessive inheritance.

Visit the Orphanet disease page for more resources.
Last updated: 3/1/2010

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
80%-99% of people have these symptoms
Atresia of the external auditory canal
Absent ear canal
0000413
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Median cleft lip and palate
Central cleft lip and palate
Midline cleft lip/palate
[ more ] 		0008501
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
30%-79% of people have these symptoms
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Crossed fused renal ectopia 0004736
Global developmental delay 0001263
Horseshoe kidney
Horseshoe kidneys
0000085
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Specific learning disability 0001328
Thenar muscle atrophy 0003393
5%-29% of people have these symptoms
Bifid nasal tip
Cleft nasal tip
0000456
Bifid nose
Indentation or clefting of the nose
0011803
Percent of people who have these symptoms is not available through HPO
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] 		0001627
Abnormal vertebral morphology 0003468
Abnormality of cardiovascular system morphology 0030680
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ] 		0000925
Autosomal recessive inheritance 0000007
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] 		0000455
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Ectopic kidney
Abnormal kidney location
Displaced kidney
[ more ] 		0000086
Facial cleft
Cleft of the face
0002006
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Narrow mouth
Small mouth
0000160
Psychomotor retardation 0025356
Short 5th finger
Short fifth finger
Short fifth fingers
Short little finger
Short pinkie finger
Short pinky finger
[ more ] 		0009237
Small thenar eminence 0001245
Showing of 31 |
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

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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 Bixler Christian Gorlin syndrome. Click on the link to view a sample search on this topic.

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