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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2306
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.
It has been described in six male patients, three of them being sibs born to nonconsanguineous parents.
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).
The etiology is unknown.
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.
Prenatal diagnosis may be performed by ultrasonography with careful examination of facial and cardiac structures.
As the syndrome has only been reported in males, X-linked recessive inheritance is possible, but autosomal recessive inheritance cannot be ruled out.
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.
Source: GARD Last updated on 05-01-20
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