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Isotretinoin-like syndrome
Disease definition
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.
ORPHA:2306
Classification level: DisorderSummary
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.
A summary on this disease is available in Deutsch (2007) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)
Additional information