Rare Pulmonology News

Disease Profile

Arhinia choanal atresia microphthalmia

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

Antenatal

ICD-10

Q87.0

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.

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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)

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

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.

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
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

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.