Aminopterin/methotrexate embryofetopathy

A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.



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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: 33

HPO ID Term Frequency
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0002323 Anencephaly Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003027 Mesomelia Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009891 Underdeveloped supraorbital ridges Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001883 Talipes Frequent (79-30%)
HP:0002084 Encephalocele Frequent (79-30%)
HP:0002435 Meningocele Frequent (79-30%)
HP:0100335 Non-midline cleft lip Frequent (79-30%)
HP:0001231 Abnormal fingernail morphology Occasional (29-5%)
HP:0001360 Holoprosencephaly Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001636 Tetralogy of Fallot Occasional (29-5%)
HP:0001696 Situs inversus totalis Occasional (29-5%)
HP:0001792 Small nail Occasional (29-5%)
HP:0004935 Pulmonary artery atresia Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0009601 Aplasia/Hypoplasia of the thumb Occasional (29-5%)
HP:0010301 Spinal dysraphism 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