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Diseases

Genetic and Rare Diseases Information Center (GARD)

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome


Other Names for this Disease
  • MPPH syndrome
  • Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus
  • Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome
  • Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
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Overview

MPPH syndrome is a disorder characterized by the presence of multiple birth defects and developmental delay. Classic signs and symptoms include polymicrogyria, megalencephaly, seizures, polydactyly, and hydrocephalus. Other features might include characteristic facial features, low muscle tone (hypotonia), and impaired vision.[1] Mutations in at least three different genes have been identified that cause MPPH including PIK3R2, AKT3, and CCND2. Most cases of MPPH syndrome are new (de novo) in families with no prior history.[2][3] The diagnosis of MPPH syndrome is based on physical examination, imaging studies, and genetic testing.[1] Treatment is based on the signs and symptoms present in each person.
Last updated: 5/27/2016

References

  1. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB. Am J Med Genet. Feb 2012; 158A(2):269-291. http://www.ncbi.nlm.nih.gov/pubmed/22228622/.
  2. Jean-Baptiste Rivière et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. August 2012; 44(8):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408813/. Accessed 5/27/2016.
  3. Ghayda Mirzaa et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. April 6, 2014; 46(5):510-515. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004933/.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • MPPH syndrome
  • Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus
  • Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome
  • Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.