agenesis of the corpus callosum with abnormal genitalia (ACCAG)

Pathology

• agenesis of corpus callosum

Genetics

• X-linked
• associated with defects in ARX

Clinical manifestations

• variable expression in females:
  • mental retardation
  • seizures
• manifestations in surviving males include:
  • severe acquired micrencephaly
  • mental retardation
  • limb contractures
  • scoliosis
  • tapered fingers with hyperconvex nails
  • a characteristic face with
    • large eyes
    • prominent supraorbital ridges
    • synophrys
    • optic atrophy
    • broad alveolar ridges
  • seizures
  • urologic anomalies include
    • renal dysplasia
    • cryptorchidism
    • hypospadias

More general terms

• agenesis of the corpus callosum
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/300004