Aicardi syndrome - Phenotip

Aicardi syndrome Relevant markers:

Adrenal agenesisAgenesis of vermisAnal atresiaChoroid plexus cyst (CPC)Choroid plexus papillomaDandy Walker malformationFacial cleftHeterotopiaHypoplasia/partial agenesis of vermisInter-hemispheric cystPachygyriaPineal cystPolymicrogyriaShort corpus callosum

Parents markers:

Agenesis of corpus callosum (ACC)Corpus callosum hypoplasiaHemivertebraHoloprosencephalyPericallosal lipomaMicrophthalmiaScoliosisVentriculomegalyVertebral body

Incidence:

1/1000000 — -

Male — Female Ratio:

- — 1

Involved genes:
(gene — definition — chromosome)

Xp22

Inheritance mode:

Sporadic (new mutation), X-linked dominant

Other antenatal testing:

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2009	Brain Dev	Case report	Read on PubMed
2010	J Ultrasound Med	Case report	Read on PubMed