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Fetal hydantoin syndrome
1 associated gene
1 connected disease
32 signs/symptoms
Disease Type of connection
Familial hypercholanemia
Synonym(s):
- Fetal dihydantoin syndrome
- Phenytoin embryofetopathy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare teratologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
1 MeSH reference: C537922

Gene symbol UniProt reference OMIM reference
EPHX1 P07099132810
Very frequent
- Abnormal dermatoglyphics
- Anomalies of ear and hearing
- Antenatal exposure : anticonvulsants
- Antenatal exposure : sedatives
- Flattened nose
- Low set ears / posteriorly rotated ears
- Short / small nose

Frequent
- Abnormally placed nipples
- Absent / small fingernails / anonychia of hands
- Anomalies of spine, vertebrae and pelvis
- Bifid scrotum
- Coarse / thick hair
- Epicanthic folds
- Excess nuchal skin without pterygium colli
- Fingerlike / triphalangeal thumb
- Herniae
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Large fontanelle / delayed fontanelle closure
- Low hair line (back)
- Macrostomia / big mouth
- Microcephaly
- Protruding lips
- Ptosis
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Strabismus / squint

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Neoplasms / tumors
- Structural anomalies of the cardio-circulatory system
- Undescended / ectopic testes / cryptorchidia / unfixed testes