Iniencephaly

Iniencephaly is a rare type of cephalic disorder characterised by three common characteristics: a defect to the occipital bone, spina bifida of the cervical vertebrae and retroflexion (backward bending) of the head on the cervical spine. Stillbirth is the most common outcome, with a few rare examples of live birth, after which death invariably occurs within a short time.

Iniencephaly
Other namesIniencephaly clausus
Iniencephaly showing a stargazing head and an enlarged skull
SymptomsNeural malformations
Usual onsetCongenital
DurationLong term
TypesIniencephaly apertus, Iniencephaly clausus
CausesUnknown
Diagnostic methodPrenatal screening
Differential diagnosisKlippel–Feil syndrome
PreventionPrenatal screening
TreatmentNone
MedicationNone
PrognosisInvariably fatal
FrequencyRare

The disorder was first described by Étienne Geoffroy Saint-Hilaire in 1836. The name is derived from the Ancient Greek word ἰνίον inion, for the occipital bone/nape of the neck.

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