Iniencephaly | |
---|---|
Other names | Iniencephaly clausus |
Iniencephaly showing a stargazing head and an enlarged skull | |
Symptoms | Neural malformations |
Usual onset | Congenital |
Duration | Long term |
Types | Iniencephaly apertus, Iniencephaly clausus |
Causes | Unknown |
Diagnostic method | Prenatal screening |
Differential diagnosis | Klippel–Feil syndrome |
Prevention | Prenatal screening |
Treatment | None |
Medication | None |
Prognosis | Invariably fatal |
Frequency | Rare |
Iniencephaly is a rare type of cephalic disorder[1][2] 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.[3] Stillbirth is the most common outcome, with a few rare examples of live birth, after which death invariably occurs within a short time.
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.