Fetal hydantoin syndrome

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.



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Narrow down the case reports



Total: 13 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(40.2%)		 104383
 [Fetal hydantoin syndrome in siblings].
Schinzel A.
Schweiz Med Wochenschr. 1979;109(3):68-72.
Microcephaly Short nose
Adult Child Females Fetal Diseases Growth Disorders Homo sapiens Hydantoins Infant Intellectual Disability Male Microcephaly Pregnancy Syndrome Tonic-Clonic Epilepsy
2
(39.0%)		 23082254
(3469078)
 Fetal hydantoin syndrome and its anaesthetic implications: a case report.
Singh R, Kumar N, Arora S, Bhandari R, Jain A.
Case Rep Anesthesiol. 2012;2012:370412.
Microcephaly
3
(32.1%)		 103474
 Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.
Wallar PH, Genstler DE, George CC.
Ann Ophthalmol. 1978;10(11):1568-72.
Hypertelorism Cleft lip
Adult Anticonvulsants Blepharoptosis Child, Preschool Cleft Palate Eye Abnormalities Face Females Growth Disorders Homo sapiens Hydantoins Infant Infant, Newborn Kidney Lacrimal Apparatus Male Pregnancy Strabismus Syndrome
4
(31.0%)		 9212184
 Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?
Yalcinkaya C, Tuysuz B, Somay G, Cenani A.
Clin Genet. 1997;51(5):343-5.
Polydactyly
Abnormalities, Drug-Induced Child, Preschool Congenital Foot Deformity Craniofacial Abnormalities Females Growth Disorders Homo sapiens Intellectual Disability Polydactyly
5
(27.8%)		 2501774
 Fetal hydantoin syndrome: a case report.
Nanda A, Kaur S, Bhakoo ON, Kapoor MM, Kanwar AJ.
Pediatr Dermatol. 1989;6(2):130-3.
Geographic tongue
Abnormalities, Drug-Induced Differential Diagnosis Face Females Fingers Homo sapiens Infant Male Pregnancy Pregnancy Complications Prenatal Exposure Delayed Effects Syndrome Tonic-Clonic Epilepsy
5
(27.8%)		 822687
 Growth retardation, dysmorphic facies and minor malformations following massive exposure to phenobarbitone in utero.
Seip M.
Acta Paediatr Scand. 1976;65(5):617-21.
Wide mouth
Abnormalities, Drug-Induced Child Child, Preschool Face Females Fingers Growth Disorders Homo sapiens Male Maternal-Fetal Exchange Pregnancy Tonic-Clonic Epilepsy
7
(23.3%)		 6197009
 "Ricin syndrome". A possible new teratogenic syndrome associated with ingestion of castor oil seed in early pregnancy: a case report.
El Mauhoub M, Khalifa MM, Jaswal OB, Garrah MS.
Ann Trop Paediatr. 1983;3(2):57-61.
Vertebral segmentation defect
Abnormalities, Drug-Induced Face Females Fingers Homo sapiens Infant Pregnancy Ricin Syndrome Toes
8
(4.0%)		 11840251
 Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome.
Shah MK, Morava E, Gill W, Marble MR.
J Perinatol. 2002;22(1):89-90.
Hypocalcemia
TBX1
Abnormalities, Drug-Induced Adult Females Fetus Homo sapiens Hydantoins Hypocalcemia Infant, Newborn Male Maternal-Fetal Exchange Pregnancy Syndrome Transposition of Great Vessels
8
(4.0%)		 9677735
 Two siblings with fetal hydantoin syndrome.
Ozkinay F, Yenigun A, Kantar M, Ozkinay C, Avanoglu A, Ulman I.
Turk J Pediatr. 1998;40(2):273-8.
Ambiguous genitalia
Abnormalities, Drug-Induced Anticonvulsants Child, Preschool Craniofacial Abnormalities Epilepsy Females Homo sapiens Nails, Malformed Pregnancy Pregnancy Complications Syndrome
8
(4.0%)		 6890744
 [Fetal alcohol syndrome and malignant tumors].
Becker H, Zaunschirm A, Muntean W, Domej W.
Wien Klin Wochenschr. 1982;94(14):364-5.
Pyelonephritis
Bladder Neoplasm Females Fetal Alcohol Spectrum Disorders Homo sapiens Infant Male Pregnancy Rhabdomyosarcoma Urinary Bladder
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000364 Hearing abnormality Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000377 Abnormality of the pinna Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0000048 Bifid scrotum Frequent (79-30%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000235 Abnormality of the fontanelles or cranial sutures Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000474 Thickened nuchal skin fold Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0001199 Triphalangeal thumb Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001804 Hypoplastic fingernail Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002208 Coarse hair Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006610 Wide intermamillary distance Frequent (79-30%)
HP:0009882 Short distal phalanx of finger Frequent (79-30%)
HP:0100790 Hernia Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0001626 Abnormality of the cardiovascular system Occasional (29-5%)
HP:0002664 Neoplasm Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0000252 Microcephaly 1
HP:0001894 Thrombocytosis 1
HP:0002414 Spina bifida 1
HP:0002901 Hypocalcemia 1
HP:0010442 Polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID