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Disease Profile

Isotretinoin embryopathy like 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

Infancy

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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.

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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)

Syndrome of microtia and aortic arch anomalies; Microtia aortic arch syndrome

Categories

Congenital and Genetic Diseases

Summary

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

Orpha Number: 2306

Definition
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.

Epidemiology
It has been described in six male patients, three of them being sibs born to nonconsanguineous parents.

Clinical description
It is characterized by the same anomalies as those described after maternal treatment with the drug isotretinoin (a vitamin A analog used for treatment of acne): malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities).

Etiology
The etiology is unknown.

Diagnostic methods
Diagnosis may be suspected in patients with a conotruncal heart and ear anomalies. Computed tomography of the temporal bone may reveal agenesis of the external auditory canals and bilateral ossicular chain abnormalities.

Antenatal diagnosis
Prenatal diagnosis may be performed by ultrasonography with careful examination of facial and cardiac structures.

Genetic counseling
As the syndrome has only been reported in males, X-linked recessive inheritance is possible, but autosomal recessive inheritance cannot be ruled out.

Prognosis
Survival may be influenced by the severity of the heart defect and no data are available on long term prognosis.

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
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
30%-79% of people have these symptoms
Abnormal aortic arch morphology
0012303
Abnormal cardiac atrium morphology
Abnormality of heart atrium
0005120
Abnormal cardiac ventricle morphology
0001713
Abnormal posterior cranial fossa morphology
0000932
Abnormality of the pulmonary veins
Abnormality of lung veins
0011718
Aortic valve stenosis
Narrowing of aortic valve
0001650
Aplasia/Hypoplasia of the inner ear
Absent/small inner ear
Absent/underdeveloped inner ear

[ more ]

0008774
Atresia of the external auditory canal
Absent ear canal
0000413
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Bilateral sensorineural hearing impairment
0008619
Cleft palate
Cleft roof of mouth
0000175
Conotruncal defect
0001710
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Inguinal hernia
0000023
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Mild global developmental delay
0011342
Patent ductus arteriosus
0001643
Persistent left superior vena cava
0005301
Postnatal growth retardation
Growth delay as children
0008897
Preauricular skin tag
0000384
Thin anteverted nares
0004495
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
5%-29% of people have these symptoms
Anotia
0009892
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007

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 Isotretinoin embryopathy like syndrome. Click on the link to view a sample search on this topic.