Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

A syndrome that is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.



Input patient's signs and symptoms


Narrow down the case reports



Total: 9 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.8%)		 24092603
 Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.
Zamora TG, Roberts KD.
BMJ Case Rep. 2013;2013:.
Macrocephaly Postaxial polydactyly
Diagnostic Imaging Differential Diagnosis Disease Progression Homo sapiens Hydrocephalus Infant, Newborn Male Malformations of Cortical Development Polydactyly
1
(48.8%)		 18474936
 Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.
Pisano T, Meloni M, Cianchetti C, Falchi M, Nucaro A, Pruna D.
J Child Neurol. 2008;23(8):916-8.
Macrocephaly Syndactyly
Brain Cephalometry Craniofacial Abnormalities Developmental Disabilities Females Follow-Up Studies Homo sapiens Hydrocephalus Infant Magnetic Resonance Imaging Malformations of Cortical Development Neurologic Examination Syndactyly Syndrome
1
(48.8%)		 16807158
 A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.
Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-Francois L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L.
Eur J Med Genet. 2006;49(6):466-71.
Macrocephaly Polydactyly
Brain Females Homo sapiens Hydrocephalus Infant Magnetic Resonance Imaging Polydactyly Syndrome
4
(31.0%)		 26860062
 De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.
Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A.
Eur J Hum Genet. 2016;24(9):1359-62.
Hydrocephalus Polydactyly
PIK3CD PIK3R2
c|SUB|A|1126|G c|SUB|G|1117|A;RS#:587776934 c|SUB|G|1669|C;RS#:372272045 c|SUB|T|1202|C;RS#:587777624 p|SUB|D|557|H;RS#:372272045 p|SUB|G|373|R;RS#:587776934 p|SUB|K|376|E p|SUB|L|401|P;RS#:587777624 rs587776934
Child Homo sapiens Male Malformations of Cortical Development Missense Mutation Phenotype Phosphatidylinositol 3-Kinases Polymicrogyria Syndrome
4
(31.0%)		 26852507
 MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.
Demir N, Peker E, Gulsen I , Kaba S, Tuncer O.
Genet Couns. 2015;26(4):381-5.
Blindness Polydactyly
Cleft Palate Fatal Outcome Females Homo sapiens Hydrocephalus Infant, Newborn Malformations of Cortical Development Physical Examination Polydactyly Syndrome
4
(31.0%)		 23348821
 Prenatal diagnosis of MPPH syndrome.
De Keersmaecker B, Van Esch H, Van Schoubroeck D, Claus F, Moerman P, De Catte L.
Prenat Diagn. 2013;33(3):292-5.
Polydactyly
Adult Females Homo sapiens Hydrocephalus Magnetic Resonance Imaging Malformations of Cortical Development Polydactyly Pregnancy Ultrasonography
4
(31.0%)		 21481746
 MPPH syndrome: two new cases.
Osterling WL, Boyer RS, Hedlund GL, Bale JF Jr.
Pediatr Neurol. 2011;44(5):370-3.
Hydrocephalus Postaxial polydactyly
Brain Child Child, Preschool Females Homo sapiens Hydrocephalus Magnetic Resonance Imaging Male Malformations of Cortical Development Polydactyly Seizures
4
(31.0%)		 19369601
 Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings.
Tore HG, McKinney AM, Nagar VA, Lohman B, Truwit CL, Raybaud C.
AJNR Am J Neuroradiol. 2009;30(8):1620-2.
Hydrocephalus Polydactyly
Head Homo sapiens Hydrocephalus Infant, Newborn Magnetic Resonance Imaging Male Malformations of Cortical Development Polydactyly Syndrome
4
(31.0%)		 15627943
 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB.
Neuropediatrics. 2004;35(6):353-9.
Hydrocephalus Postaxial polydactyly
rs1553462330 rs587776935 rs587777618 rs587777621
Brain Child Child, Preschool Females Homo sapiens Hydrocephalus Hypertrophy Infant Male Polydactyly Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001355 Megalencephaly Very frequent (99-80%)
HP:0002126 Polymicrogyria Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001653 Mitral regurgitation Frequent (79-30%)
HP:0001671 Abnormal cardiac septum morphology Frequent (79-30%)
HP:0005105 Abnormal nasal morphology Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0100542 Abnormal localization of kidney Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000238 Hydrocephalus 5
HP:0010442 Polydactyly 4
HP:0100259 Postaxial polydactyly 2


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 5296
PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 5296
CCND2 cyclin D2 894
AKT3 AKT serine/threonine kinase 3 10000