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Dobyns Lab

Megalencephaly Registry

The Megalencephaly Registry collects natural history information about a diverse group of brain overgrowth syndromes that include:

From Mirzaa, et al., AJMG 2012
  • :: Large head size - megalencephaly or hemimegalencephaly
  • :: Hydrocephalus
  • :: Chiari malformation
  • :: Polymicrogyria
  • :: Body overgrowth
  • :: Vascular malformations

We are interested in learning more about these disorders, with particular focus on the connections between megalencephaly syndromes and autism, epilepsy, and cancer.

Dr. Ghayda Mirzaa

The Megalencephaly Registry is directed by Dr. Ghayda Mirzaa, Instructor of Pediatrics and geneticist at Seattle Children's Hospital. Dr. Mirzaa and Dr. Dobyns have several years' experience seeing children with these conditions, and work done in the Dobyns Lab recently uncovered the genetic basis of the megalencephaly-capillary malformation syndrome (MCAP) and the megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome (MPPH). These discoveries will result in improved diagnosis, genetic counseling and may lead to new therapeutic options in the near future.

Our team is now recruiting MCAP and MPPH individuals for a longitudinal clinical research study to improve our knowledge of the natural history of these syndromes, and help develop accurate and useful medical management guidelines, especially pertaining to neurosurgical complications commonly encountered in MCAP and MPPH, such as hydrocephalus and cerebellar tonsillar ectopia or Chiari malformations.

We begin enrollment by obtaining informed consent, followed by collecting and reviewing clinical reports, brain MRI images, and photographs. We are looking for follow-up information regarding emerging medical issues throughout the affected individual's life. Summaries of our assessments, as well as clarification of the diagnosis in some cases, will be made available to families and physicians on request. Furthermore, genetic studies of these two syndromes and related overgrowth disorders are ongoing.

Our recent publications about megalencephaly syndromes include:

Go to PubMed

Mirzaa GM, Conway RL, Gripp KW, et al. Am J Med Genet A 2012;158(A):269-91.

Go to PubMed

Riviere JB, Mirzaa GM, O'Roak BJ, et al. Nat Genet 2012;44:934-940.

For more information about the Megalencephaly Registry and how you can participate, please contact us.

If you are interested in participating in our longitudinal clinical study, please complete our Megalencephaly Intake Form.

We would also like to learn more about your child's development and behavior. If your child is 0-5 years of age, please take the time to fil out the CDC's Developmental Milestones form.

For children aged 15-30 months, please fill out the Modified Checklist for Autism in Toddlers. Thank you for your participation.