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Autosomal Recessive Primary Microcephaly

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Condition 101

What is the definition of Autosomal Recessive Primary Microcephaly?

Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. MCPH causes mild to moderate intellectual disability, which does not worsen with age, and also mild delayed speech, motor, and language skills. Some people with MCPH have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. It normally does not affect any other major organ systems or cause other health problems. MCPH can result from changes (mutations) in the ASPM gene (half of the cases) and at least other ten genes which are involved in early brain development and brain size. It is inherited in an autosomal recessive pattern. There is no cure and treatment is supportive.

What are the alternative names for Autosomal Recessive Primary Microcephaly?

  • Microcephalia vera
  • Microcephaly vera
  • True microcephaly
  • MCPH

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