Acitretin/etretinate embryopathy

A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0011438 Maternal teratogenic exposure Obligate (100%)
HP:0000218 High palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000378 Cupped ear Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000479 Abnormal retinal morphology Frequent (79-30%)
HP:0000778 Hypoplasia of the thymus Frequent (79-30%)
HP:0001622 Premature birth Frequent (79-30%)
HP:0001662 Bradycardia Frequent (79-30%)
HP:0001710 Conotruncal defect Frequent (79-30%)
HP:0001999 Abnormal facial shape Frequent (79-30%)
HP:0005104 Hypoplastic nasal septum Frequent (79-30%)
HP:0006695 Atrioventricular canal defect Frequent (79-30%)
HP:0008058 Aplasia/Hypoplasia of the optic nerve Frequent (79-30%)
HP:0008364 Abnormality of the calcaneus Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0008619 Bilateral sensorineural hearing impairment Frequent (79-30%)
HP:0009099 Median cleft palate Frequent (79-30%)
HP:0009117 Aplasia/Hypoplasia of the maxilla Frequent (79-30%)
HP:0012759 Neurodevelopmental abnormality Frequent (79-30%)
HP:0000384 Preauricular skin tag Occasional (29-5%)
HP:0001709 Third degree atrioventricular block Occasional (29-5%)
HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs Occasional (29-5%)
HP:0006496 Aplasia/hypoplasia involving bones of the upper limbs Occasional (29-5%)
HP:0009760 Antecubital pterygium Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID