Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome (MPPH)

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
* This composite image of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome was created to help geneticists get a better analysis

What is Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome (MPPH)?

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome is a rare congenital brain condition that presents with multiple birth defects (symptoms present at birth) and developmental delay.

The syndrome is characterized by a very large head (megalocephaly) and brain. This growth is especially marked during the first two years of an affected individual’s life.

Alternative syndrome names: Megalencephaly, polymicrogyria, mega corpus callosum syndrome, MPPH; MEG-PMG-MEGACC syndrome; Megalencephaly, Mer¡ga Corpus Callosum, and Complete Lack of Motor Development.

What gene change causes Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome (MPPH)?

Mutations in the PIK3R2, AKT3, and CCND2 genes are responsible for causing the syndrome.

The syndrome is inherited in an autosomal dominant pattern with many cases of de novo, or new, mutations.

What are the main symptoms of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome (MPPH)?

The main symptoms of the syndrome are:

  • Polymicrogyria: abnormal development of the brain before birth. The surface folds of the brain develop too small. This might affect an individual’s intellectual ability and or trigger seizures, including epilepsy.
  • Megalencephaly: larger than normal brain. This is not the same as a large head.
  • Polydactyl: extra digits on the hand
  • Hydrocephalus: excessive fluid on the brain

Possible clinical traits/features:
Megalencephaly, Hydrocephalus, Global developmental delay, Ventriculomegaly, Macrocephaly, Prominent forehead, Postaxial hand polydactyly, Polymicrogyria.

How is it diagnosed?

To find out if someone has a diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome (MPPH), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Share this syndrome

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
* This composite image of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more