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

Arhinia choanal atresia microphthalmia


Other Names:
Bosma arhinia microphthalmia syndrome; Bosma Henkin Christiansen syndrome; Congenital absence of nose and anterior nasopharynx
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1135

Definition
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2015

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.

Showing of 31 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia involving the nose
Decreased nasal size
Decreased size of nose
[ more ] 		0009924
Microphthalmia
Abnormally small eyeball
0000568
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
30%-79% of people have these symptoms
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect
[ more ] 		0004408
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] 		0000453
Cleft palate
Cleft roof of mouth
0000175
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypogonadotropic hypogonadism 0000044
Inguinal hernia 0000023
Lacrimation abnormality
Abnormality of tear production
0000632
Reduced number of teeth
Decreased tooth count
0009804
5%-29% of people have these symptoms
Agenesis of permanent teeth
Failure of development of permanent teeth
Missing teeth
[ more ] 		0006349
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cleft lip 0410030
Corneal opacity 0007957
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] 		0000689
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypoplasia of teeth 0000685
Hypoplastic labia majora
Small labia majora
Underdeveloped vaginal lips
[ more ] 		0000059
Hypospadias 0000047
Synophrys
Monobrow
Unibrow
[ more ] 		0000664
Percent of people who have these symptoms is not available through HPO
Anosmia
Lost smell
0000458
Aplasia of the nose
Absent nose
Failure of development of nose
Nasal underdevelopment
Underdevelopment of nose
[ more ] 		0009927
Autosomal dominant inheritance 0000006
Coloboma
Notched pupil
0000589
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Hypogonadism
Decreased activity of gonads
0000135
Hyposmia 0004409
Micropenis
Short penis
Small penis
[ more ] 		0000054
Primary amenorrhea 0000786
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

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 Arhinia choanal atresia microphthalmia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.