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Inherited disorder characterized by coloboma, microcephaly, porencephaly, and hydronephrosis, in which an affected individual has a head circumference less than 3 standard deviations below the ageand sex-related mean. All affected individuals are mentally retarded.

Primary Autosomal Recessive Microcephaly; MCPH Syndrome.

Approximately 1:250,000 live births. True microcephaly is inherited as an autosomal recessive trait. It is genetically heterogenous, with at least five loci mapped: MCPH1 to chromosome 8p23; MCPH2 to locus 19q13.1-q13.2; MCPH3 at 9q34; MCPH4 at 15q15-q21; and MCPH5 to 1q31, which is a mutant of the ASPM (abnormal spindle-like, microcephaly associated) gene.

Microcephaly with sloping forehead, narrow forehead, and flat occiput. It is associated with mental deficiency and seizures. A small but apparently normally formed brain is the reason for the reduced head circumference.

There are no specific considerations reported. Assessment of severity of seizures and knowledge of treatment.

Pattison L, Crow YJ, Deeble VJ, et al: A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 67:1578, 2000.  [PubMed: 11078481]

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