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GTR Home > Conditions/Phenotypes > Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

Summary

Excerpted from the GeneReview: MPPH Syndrome
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ghayda Mirzaa
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Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KIAK0002, MPPH3, CCND2
    Summary: cyclin D2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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