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Fetal hydantoin syndrome in Infant/Neonate
Other Resources UpToDate PubMed

Fetal hydantoin syndrome in Infant/Neonate

Contributors: Chris G. Adigun MD, David Dasher MD, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Fetal hydantoin syndrome (FHS), also known as congenital hydantoin syndrome, comprises a spectrum of structural, developmental, neurological, and behavioral abnormalities that may occur from prenatal exposure to phenytoin. Malformations include digit and nail hypoplasia, characteristic abnormal facies, rib anomalies, low hairlines, growth retardation, and abnormal palmar creases. Genital developmental aberrations and neonatal acne have also been reported. Nail findings may be the only presenting symptom, and it has been suggested that this is a mild form of FHS.

The typical facial anomalies of FHS can be subtle and overlap considerably with the clinical presentation of neonates exposed to other antiepileptic drugs (AEDs) in utero.

There have been individual case reports of patients with FHS and the following findings: hyperpigmentation of fingernails, gum hypertrophy, digitalization of the thumbs, cleft hand, hypoplasia of distal phalanges and nails, epicanthal folds, pseudohypertelorism, epidermoid cyst, truncus arteriosus, and geographic tongue.

The spectrum of severity of FHS is broad. Studies have attempted to better define the risk of developing FHS based on exposure dosages and durations, but results have been inconclusive. A 2008 study has implied that genetic factors increase susceptibility, with deficiencies in the enzyme epoxide hydrolase and mutations in methylenetetrahydrofolate genes conferring increased risk of congenital malformations induced by phenytoin and other AEDs.

Codes

ICD10CM:
Q86.1 – Fetal hydantoin syndrome

SNOMEDCT:
70065001 – Fetal hydantoin syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Fetal valproate syndrome
  • Fetal abnormalities due to exposure to other AEDs
  • Fetal alcohol syndrome
  • Exposure to other teratogenic medications or toxins
Syndromes associated with congenital nail findings that may occur in the absence of other cutaneous findings:

Best Tests

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Management Pearls

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Therapy

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Drug Reaction Data

Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.

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References

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Last Updated:02/06/2022
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Fetal hydantoin syndrome in Infant/Neonate
A medical illustration showing key findings of Fetal hydantoin syndrome : Gingival hypertrophy, Hirsute, Hypertelorism, Hypoplastic phalanges, Micronychia, Present at birth
Clinical image of Fetal hydantoin syndrome - imageId=2374748. Click to open in gallery.
Copyright © 2022 VisualDx®. All rights reserved.