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GTR Home > Conditions/Phenotypes > Macrocephaly/megalencephaly syndrome, autosomal recessive

Macrocephaly/megalencephaly syndrome, autosomal recessive

Synonyms
Fryns Dereymaeker Haegeman syndrome

Summary

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MGCPH, PIG51, TBC7, TBC1D7
    Summary: TBC1 domain family member 7

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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