GTR Home > Conditions/Phenotypes > Complete trisomy 18 syndrome

Summary

Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability. [from GHR]

Available tests

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Clinical tests (9 available)

Molecular Genetics Tests

Clinical features

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  • EEG abnormalities
  • Short stature
  • Tapered fingers
  • Prominent nasal bridge
  • Microcephaly
  • Finger syndactyly
  • Anteverted nares
  • Cognitive impairment
  • Telecanthus
  • Short philtrum
  • Nystagmus
  • Bifid tongue
  • Synophrys
  • Abnormality of the palate
  • Hearing abnormality
  • Wide nasal bridge
  • Abnormality of the eyelashes
  • Chorioretinal coloboma
  • Blepharophimosis
  • Upslanted palpebral fissure
  • Brachydactyly syndrome
  • Postaxial hand polydactyly
  • Polyhydramnios
  • Abnormality of the voice
  • Ventriculomegaly
  • Abnormality of calvarial morphology
  • Clinodactyly of the 5th finger
  • Increased number of teeth
  • Lip pit
  • Non-midline cleft lip
  • Camptodactyly of finger
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