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Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

MPPH Syndrome


Presentation

  • Acronym MPPH3 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • A cystic CSP was present, measuring 1.5-cm maximum transverse diameter ( Fig 1 C ). The myelination pattern appeared normal.[ajnr.org]
  • The patients present with a prominent forehead, the nasal bridge is moderately flat, and the chest is narrow. Most of these signs may be present at birth.[journals.lww.com]
  • Since megalencephaly is usually presented with autism, the goal of treatment is to improve deficiencies associated with autistic causes.[en.wikipedia.org]
Movement Disorder
  • 94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100[books.google.com]
  • The enzymatic defect causes an accumulation of glutaric acid and 3-hydroxyglutaric acid that interferes in the energetic metabolism and oxidative stress, provoking neuronal impairment. [10] Untreated patients present with dystonic movement disorders in[journals.lww.com]
Inguinal Hernia
  • hernias, craniosynostosis, pectus carinatum, abnormally shaped vertebrae, enamel hypoplasia with hypocalcification of the teeth, facial abnormalities, wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation[diseaseinfosearch.org]
  • hernia 【外反脛骨】*tibia valga[L] 【外反股】*coxa valga[L] *collum valgum[L] 【外反手】*talipomanus valga[L] 【外反踵足】*talipes calcaneovalgus[L] 【外反肘】*cubitus valgus[L] 【外反足】*pes valgus[L] *talipes valgus[L] 【外反母趾】*hallux valgus[L] 【外部骨腫】*osteoma externa[L] (咳) 【咳】*cough[medo.jp]
Weakness
  • Other symptoms may include seizures, abnormal reflexes, slow heartbeat and respiratory rate, headaches, vomiting, irritability, weakness, and visual problems. [14] [15] [16] It is caused by genetic and non-genetic factors.[rarediseases.info.nih.gov]
  • *chicken-pox *water-pox *varicella 【水頭症】*hydrocephaly *hydrocephalus 【水滑液嚢腫】*hygroma ( ヒグローマ) 【水筋腫】*hydromyoma 【水銀性口内炎】*mercurial stomatitis 【水腎症】*hydronephrosis *nephrohydrosis 【水腎盂症】*hydropelvis 【水疱性類天疱瘡】*bullous pemphigoid 【水瘤】*hydrocele (衰) 【衰弱】*weakness[medo.jp]
Drooling
  • People with MPPH syndrome also have difficulty coordinating movements of the mouth and tongue (known as oromotor dysfunction), which leads to drooling, difficulty swallowing (dysphagia), and a delay in the production of speech (expressive language).[ghr.nlm.nih.gov]
  • Signs and symptoms may include: Developmental delay Crossed eyes Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech and swallowing Drooling (Source: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome; Genetic and Rare[dovemed.com]
Withdrawn
  • […] dominant inheritance ; Congenital onset ; Global developmental delay ; Hydrocephalus ; Macrocephaly ; Megalencephaly ; Polymicrogyria ; Postaxial hand polydactyly ; Prominent forehead ; Ventriculomegaly Associated Genes CCND2 Mouse Orthologs Ccnd2 (Withdrawn[mousephenotype.org]
Peripheral Neuropathy
  • Neuropathies E-2400 142 Acquired Peripheral Neuropathies E-2419 143 Inflammatory Neuropathies E-2436 144 Congenital Myasthenic Syndromes E-2451 145 Acquired Disorders of the Neuromuscular Junction E-2462 146 Duchenne and Becker Muscular Dystrophies E[books.google.com]
  • neuropathy (Andermann syndrome) SLC26A2 Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia SLC29A3 Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome[genda.com.ar]
  • neuropathy 【糖尿病性網膜症】*diabetic retinopathy 【糖尿病性リポイド類壊死】*necrobiosis lipoidica diabeticorum[L] (凍) 【凍結歩行】*frozen gait (痘) 【痘瘡】*smallpox *variola 天然痘 (疼) 【疼痛】*pain 【疼痛恐怖症】*algophobia *odynophobia 【疼痛性脂肪[沈着]症】*adiposa dolorosa[L] (冬) 【冬眠腺腫】*hibernoma ([medo.jp]
Mental Deterioration
  • If left untreated, blindness and continuing mental deterioration may occur. [14] [15] [16] Hydrocephalus may be subdivided according to the particular defect that exists in the brain and whether the cerebrospinal fluid pressure is high or normal: [14][rarediseases.info.nih.gov]
Paresis
  • RA) 【不可避流産】*inevitable abortion 【不完全ブロック】*partial block 【不整脈】*cardiac arrhythmia/*arrhythmia 【不全感染】【不発感染】*abortive infection ( 頓挫感染) 【不全症】*insufficiency 【不全整復】*malreduction 【不全脱臼】*incomplete dislocation *[ 亜脱臼] subluxation 【不全対麻痺】*paraparesis 【不全麻痺】*paresis[medo.jp]
Sleep Disturbance
  • Roos, Indiana University · Sleep Disturbances-Mark Dyken, University of Iowa · Substance Abuse and Toxicology Disorders-Barry E. Kosofsky, Weill-Cornell University Medical Center · Neurologic Manifestations of Medical Disorders-John C.[books.google.com]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Fatemi Oxford University Press, ١٨‏/٠٨‏/٢٠١٦ - 992 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments[books.google.com]
  • More Types of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome » Diagnosis See also related information on diagnosis: Diagnosis of Polymicrogyria Diagnosis of Hydrocephalus Treatments See also the following treatment articles: Treatments[familydiagnosis.com]
  • Since megalencephaly is usually presented with autism, the goal of treatment is to improve deficiencies associated with autistic causes.[en.wikipedia.org]

Prognosis

  • [ edit ] The prognosis of megalencephaly depends heavily on the underlying cause and associated neurological disorders. [18] Because the majority of megalencephaly cases are linked with autism, the prognosis is equivalent to the corresponding condition[en.wikipedia.org]
  • […] non-syndromic macrodystrophia lipomatosa syndactyly : most common associated limb anomaly, it is then termed polysyndactyly If it is an isolated anomaly it is incidental and not of concern but if associated with another anomaly it then carries a vastly variable prognosis[radiopaedia.org]
  • Takano Y, Kato Y, Masuda M, Ohshima Y, Okayasu I (1999) Cyclin D2, but not cyclin D1, overexpression closely correlates with gastric cancer progression and prognosis.[journals.plos.org]
  • Brief Report First Online: 25 July 2016 Abstract Mantle cell lymphoma (MCL) is a B cell neoplasm characterized by cyclin D1 overexpression; its prognosis is poor, especially when it exhibits a blastoid morphology.[link.springer.com]

Etiology

  • Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.[ncbi.nlm.nih.gov]
  • (Etiology) Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome may be caused by mutation(s) in PIK3R2, AKT3 or CCND2 gene Each gene codes for proteins involved in an important cellular chemical signaling pathway, known as the PI3K-AKT-mTOR[dovemed.com]
  • Older age at the time of the procedure (eg, greater than one year of age) was by far the strongest predictor of success, and noninfectious etiologies (eg, myelomeningocele, intraventricular hemorrhage, aqueductal stenosis, or tectal tumor) and lack of[es.slideshare.net]
  • Megalencephaly is classically defined into 3 groups, according to the etiology: idiopathic or benign, metabolic, and anatomic (Fig. 1).[journals.lww.com]
  • Conclusions A combination of genetic and biochemical methods was able to identify the involvement of the mTOR pathway in approximately 70% of patients with megalencephaly of an unknown etiology.[bmcmedgenet.biomedcentral.com]

Epidemiology

  • Relevant External Links for CCND2 Genetic Association Database (GAD) CCND2 Human Genome Epidemiology (HuGE) Navigator CCND2 Tumor Gene Database (TGDB): CCND2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CCND2 No data available for Genatlas[genecards.org]
  • In most cases, those diagnosed with this type of megalencephaly usually do not survive through adulthood. [20] Epidemiology [ edit ] Approximately one out of every 50 (2%) children in the general population are said to have megalencephaly. [3] Additionally[en.wikipedia.org]
  • ., Vasile Valeriu doi: 10.1097/MD.0000000000006814 Research Article: Meta-Analysis of Observational Studies in Epidemiology Abstract Author Information Authors Article Outline Outline Article Metrics Metrics Megalencephaly and macrocephaly present with[journals.lww.com]
  • Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM: Epidemiology of hemimegalencephaly: a case series and review. Am J Med Genet A 139:204-211 (2005).[karger.com]
Sex distribution
Age distribution

Pathophysiology

  • Hydrocephalus occurs in 90 % of children with Dandy-Walker malformation/variant The pathophysiology of the hydrocephalus is now felt to be multifactorial.[es.slideshare.net]
  • Pathophysiology [ edit ] One impact of megalencephaly is the complete lack of motor development.[en.wikipedia.org]

Prevention

  • Mutations in the AKT3 , CCND2 , or PIK3R2 gene increase the activity of their respective proteins or prevent the proteins from being broken down when they should.[ghr.nlm.nih.gov]
  • […] by the number of consensus ZKSCAN3 binding sites) Other FSH acutely regulated CCND2 expression through both PKA and PI3K signaling pathways during granulosa cell proliferation and also accelerated its ubiquitination-proteasomal degradation, which may prevent[genatlas.medecine.univ-paris5.fr]
  • How can Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome be Prevented? Currently, Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • CCND2 - a gene involved in cell-cycle control, which is a key control mechanism to prevent cancer development In all, 54% of myeloma tumors overexpress cyclin D1 (CCND1), 48% overexpress cyclin D2 ( CCND2 ), 3% overexpress cyclin D3 (CCND3), and 8% overexpress[medical-dictionary.thefreedictionary.com]

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