U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

Synonyms
MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT; MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME

Summary

MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome. [from GeneReviews]

Available tests

41 tests are in the database for this condition.

Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MPPH, MPPH1, P85B, p85, p85-BETA, p85beta, PIK3R2
    Summary: phosphoinositide-3-kinase regulatory subunit 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.