Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Alternate names[edit | edit source]
MPPH syndrome; Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus; Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome; Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Definition[edit | edit source]
MPPH syndrome is a disorder characterized by the presence of multiple birth defects and developmental delay. Classic signs and symptoms include polymicrogyria, megalencephaly, seizures, polydactyly, and hydrocephalus.
Epidemiology[edit | edit source]
About 60 affected individuals have been described in the medical literature.
Cause[edit | edit source]
- Mutations in at least three different genes causes MPPH syndrome, including PIK3R2, AKT3, and CCND2.
- It is not known exactly how mutations within these genes causes MPPH syndrome; however, studies show that they are involved in a number of different functions in the body including vascular, limb, and brain development as well as regulation of growth.
Inheritance[edit | edit source]
Most cases of MPPH syndrome are new (de novo) in families with no prior history.
Signs and symptoms[edit | edit source]
- Common signs and symptoms of MPPH syndrome include polymicrogyria, megalencephaly, intellectual disability, seizures, polydactyly, and hydrocephalus.
- Additional signs and symptoms reported in the medical literature include thin corpus callosum, psychomotor impairment (i.e., slowing down of physical reactions, movements, and speech), impaired vision, low muscle tone (hypotonia), connective tissue symptoms including skin elasticity, mild characteristic facial differences, macrosomia (often at birth), and infantile spasms.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms Hydrocephalus(Too much cerebrospinal fluid in the brain)
- Macrocephaly(Increased size of skull)
- Megalencephaly
- Polymicrogyria(More grooves in brain)
- Postaxial hand polydactyly(Extra little finger)
30%-79% of people have these symptoms
- Abnormal localization of kidney(Abnormal localisation of kidneys)
- Abnormal nasal morphology(Abnormal of nasal shape)
- Depressed nasal bridge(Depressed bridge of nose)
- High forehead
- Hypertelorism(Wide-set eyes)
- Mitral regurgitation
- Narrow mouth(Small mouth)
- Seizure
- Telecanthus(Corners of eye widely separated)
- Ventricular septal defect(Hole in heart wall separating two lower heart chambers)
Diagnosis[edit | edit source]
The diagnosis of MPPH syndrome is based on physical examination, imaging studies, and genetic testing.
Treatment[edit | edit source]
Hydrocephalus warrants early neurosurgical intervention. Oromotor difficulties, developmental delays, and epilepsy are treated as per usual clinical care standards.[1][1].
References[edit | edit source]
- ↑ Mirzaa G. MPPH Syndrome. 2016 Nov 17. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK396098/
NIH genetic and rare disease info[edit source]
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome is a rare disease.
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome Resources | ||
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