Isotretinoin syndrome

Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(60.4%)		 18629878
 Pierre Robin sequence associated with first trimester fetal tamoxifen exposure.
Berger JC, Clericuzio CL.
Am J Med Genet A. 2008;146A(16):2141-4.
Pierre-Robin sequence Micrognathia
Abnormalities, Drug-Induced Females Homo sapiens Infant, Newborn Male Maternal Exposure Pierre Robin Syndrome Pregnancy Pregnancy Trimester, First Prenatal Exposure Delayed Effects
2
(26.3%)		 22612313
 Asymmetric crying face in a newborn with isotretinoin embryopathy.
Sarici D, Akin MA, Kurtoglu S, Uzum K, Kiraz A.
Pediatr Dermatol. 2013;30(6):e289-90.
Asymmetric crying face
Abnormalities, Drug-Induced Acne Vulgaris Crying Dermatologic Agents Facial Muscles Females Homo sapiens Infant, Newborn Pregnancy
3
(4.0%)		 29843537
 Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report.
Erenel H, Ozel A, Oztunc F, Kizilkilic O, Comunoglu N, Uludag S, Madazli R.
Fetal Pediatr Pathol. 2018;37(4):282-286.
Hypertelorism
Abnormalities, Drug-Induced Adult Dermatologic Agents Females Homo sapiens Magnetic Resonance Imaging Male Pregnancy Prenatal Exposure Delayed Effects Ultrasonography, Prenatal
3
(4.0%)		 20638138
 Development of canal cholesteatoma in a patient with prenatal isotretinoin exposure.
Van Abel KM, Nelson ME, Collar RM, Lesperance MM.
Int J Pediatr Otorhinolaryngol. 2010;74(9):1082-4.
Ventricular septal defect
Abnormalities, Drug-Induced Child Cholesteatoma Ear Diseases Females Homo sapiens Pregnancy Prenatal Exposure Delayed Effects Teratogens
3
(4.0%)		 3492909
 Thymic hypoplasia associated with isotretinoin embryopathy.
Cohen M, Rubinstein A, Li JK, Nathenson G.
Am J Dis Child. 1987;141(3):263-6.
Pneumonia
Abnormalities, Drug-Induced Adult Females Homo sapiens Infant, Newborn Maternal-Fetal Exchange Pregnancy T-Lymphocyte Thymus Gland
3
(4.0%)		 1438063
 Morphological features of a case of retinoic acid embryopathy.
Van Maldergem L, Jauniaux E, Gillerot Y.
Prenat Diagn. 1992;12(8):699-701.
Hydrocephalus
Adult Congenital Heart Defects Females Homo sapiens Hydrocephalus Maternal-Fetal Exchange Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000356 Abnormality of the outer ear Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001315 Reduced tendon reflexes Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0001800 Hypoplastic toenails Frequent (79-30%)
HP:0004422 Biparietal narrowing Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0100543 Cognitive impairment Frequent (79-30%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0003298 Spina bifida occulta Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000324 Facial asymmetry 1
HP:0009797 Cholesteatoma 1
HP:0011333 Asymmetric crying face 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID