Also called as Fetal Retinoid Syndrome. Accutane Embryopathy is a characteristic pattern of mental and physical birth defects that results from maternal use of retinoids, the synthetic vitamin A derivative during pregnancy. The most well known retinoid is Isotretinoin (Accutane), a drug used to treat severe nodular acne.

 

Signs and symptoms

The range and severity of associated birth abnormalities will vary greatly from case to case.

However, characteristic features may include growth delays before and after birth (prenatal and postnatal growth retardation), malformations of the skull and facial (craniofacial) region, central nervous system abnormalities, heart abnormalities.

Craniofacial defects

Facial asymmetry – Due to underdevelopment of the skull and facial bones

• The specific facial features including a sharply sloping forehead, small jaw flattened bridge of the nose, and an abnormal size and/or placing of the eye sockets and eyes.
• Abnormal teeth mottling, facial nerve paralysis, and hair pattern abnormalities.
• Malformed ears- external ear abnormalities vary from very small (Microtia) or missing ear (anotia), and stenosis of external canal.

Cardiac anomalies

• Tetralogy of fallot
• Conotruncal malformations
• Transposition of great cardiac vessels
• Double outlet right ventricle
• Aortic arch hypoplasia

Central nervous system

• Microcephaly (small head)
• Hydrocephalus
• Mild to moderate mental retardation with learning disabilities
• Cerebellar hypoplasia

Others

• Thymic aplasia and thymic hypoplasia
• Cleft palate

Tests and diagnosis

History of Accutane use by the mother during the first trimester of pregnancy

Recognition of the gross physical abnormalities in an exposed infant

A prenatal ultrasound evaluation may detect abnormalities such as heart defects, hydrocephalus or microcephaly, or some craniofacial abnormalities.

Treatment and management

• The care of an infant with Accutane embryopathy after delivery is primarily symptomatic.
• Infants with serious heart abnormalities will need to be evaluated by cardiologists and may require surgery.
• Infants with brain and nervous system abnormalities, such as hydrocephalus may require shunt placement soon after birth
• Speech therapy and behavioral counseling is required

Prognosis

• Accutane is a safe and highly effective drug when used properly.
• Accutane embryopathy is a serious medical condition that is directly related to a maternal use of Accutane during the first trimester of her pregnancy.
• Although most individuals with Accutane embryopathy will have a normal lifespan, others may die at a young age due to complex internal abnormalities.
• Mild or moderate mental handicap is common even when there are no obvious physical features of Accutane embryopathy.