Accutane embryopathy
Synonyms
8
Overview
Accutane embryopathy is a rare disorder and it is 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 Aderivative during pregnancy. The most well known retinoid is Isotretinoin (Accutane), a drug used to treat severe nodular acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. Isotretinoin can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.
Symptoms
- 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
- Specific facial features (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)
- Tetralogy of fallot
- Conotruncal malformations
- Transposition of great cardiac vessels
- Double outlet right ventricle
- Aortic arch hypoplasia
- Microcephaly (small head)
- Hydrocephalus
- Mild to moderate mental retardation with learning disabilities
- Cerebellar hypoplasia
- Thymic aplasia and thymic hypoplasia
- Cleft palate
Causes
- Hypertension
- Diabetic retinopathy
- Glaucoma
- Cholesterol emboli
- Papilledema
- Pigmented crescent
- Macular degeneration
- Retinal detachment
- Acute optic neuritis
- Optic atrophy
- Retinal hemorrhage
- Chorioretinal exudates
- Lipemia retinalis
- Central retinal artery occlusion
- Central retinal vein occlusion
- Angioid streaks
- Hyperviscosity Top
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
Prognosis
- 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
Treatment
- 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
Resources
- NIH