Arhinia choanal atresia microphthalmia

Title

Other Names:

Bosma arhinia microphthalmia syndrome; Bosma Henkin Christiansen syndrome; Congenital absence of nose and anterior nasopharynx

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases

Summary Summary

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

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

Symptoms 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.

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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
Hypoplastic labia majora	Small labia majora Underdeveloped vaginal lips [ more ]	0000059
Hypospadias		0000047
Synophrys	Monobrow Unibrow [ more ]	0000664
1%-4% of people have these symptoms
Absent tragus		0011268
Atresia of the external auditory canal	Absent ear canal	0000413
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cleft lip		0410030
Coloboma	Notched pupil	0000589
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Hypoplasia of teeth		0000685
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Lacrimal duct atresia	Unopened tear duct	0000564
Paranasal sinus hypoplasia		0006784
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
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Micropenis	Short penis Small penis [ more ]	0000054
Primary amenorrhea		0000786

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

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

GARD Answers GARD Answers

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