Autosomal Recessive Primary Microcephaly (MCPH): An Update

Sami Zaqout; Deborah Morris-Rosendahl; Angela M. Kaindl

doi:10.1055/s-0037-1601448

Neuropediatrics, Table of Contents

Neuropediatrics 2017; 48(03): 135-142
DOI: 10.1055/s-0037-1601448

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Autosomal Recessive Primary Microcephaly (MCPH): An Update

Sami Zaqout

¹Institute of Cell Biology and Neurobiology, Charité – Universitätsmedizin Berlin, Campus Mitte, Berlin, Germany

²Center for Chronically Sick Children (Sozialpädiatrisches Zentrum), Charité – Universitätsmedizin Berlin, Berlin, Germany

³Berlin Institute of Health, Berlin, Germany

⁴Department of Pediatric Neurology, Charité – Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany

,

Deborah Morris-Rosendahl

⁵Clinical Genetics and Genomics, Royal Brompton & Harefield NHS Foundation Trust, London, United Kingdom

⁶National Heart and Lung Institute, Imperial College London, London, United Kingdom

,

Angela M. Kaindl

¹Institute of Cell Biology and Neurobiology, Charité – Universitätsmedizin Berlin, Campus Mitte, Berlin, Germany

²Center for Chronically Sick Children (Sozialpädiatrisches Zentrum), Charité – Universitätsmedizin Berlin, Berlin, Germany

³Berlin Institute of Health, Berlin, Germany

⁴Department of Pediatric Neurology, Charité – Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany

› Author Affiliations

Abstract

Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.

Keywords

MCPH - microcephaly - intellectual disability

Full Text

References

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