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Multiple congenital anomalies-hypotonia-seizures syndrome

From Wikipedia, the free encyclopedia
Multiple congenital anomalies-hypotonia-seizures syndrome
SpecialtyMedical genetics
SymptomsHypotonia, congenital anomalies and seizures
ComplicationsEarly death
Usual onsetBirth
DurationLife-long (short life span)
Types1, 2, 3, 4
CausesGenetic mutation
Preventionnone
PrognosisBad
Frequencyvery rare, only 15 cases have been reported in medical literature.

Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.[1]

Presentation

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People with this disorder often show the following symptoms:[2]

General

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Heart

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Genito-urinary

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  • Hydrocele
  • Renal collection system dilatation
  • Hydroureter
  • Hydronephrosis
  • Trabecular urinary bladder hypertrophy

Gastrointestinal

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Facial

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Auricular

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  • Auricle abnormalities

Causes

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It is caused by an autosomal recessive mutation in the PIGN gene, in chromosome 18, to be more specific; it is caused by a base pair substitution of C to A somewhere in the gene.[3][4][5][6]

Epidemiology

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Only 15 cases of this syndrome have been reported in medical literature.[7]

References

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  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Multiple congenital anomalies hypotonia seizures syndrome". www.orpha.net. Retrieved 2022-05-20.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "Multiple congenital anomalies-hypotonia-seizures syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-20.
  3. ^ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J (2011-06-01). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN". Journal of Medical Genetics. 48 (6): 383–389. doi:10.1136/jmg.2010.087114. ISSN 1468-6244. PMID 21493957. S2CID 39973123.
  4. ^ Jiao, Xianru; Xue, Jiao; Gong, Pan; Bao, Xinhua; Wu, Ye; Zhang, Yuehua; Jiang, Yuwu; Yang, Zhixian (2020-03-27). "Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)". Orphanet Journal of Rare Diseases. 15 (1): 78. doi:10.1186/s13023-020-01365-0. ISSN 1750-1172. PMC 7099766. PMID 32220244.
  5. ^ Yang, Li; Peng, Jing; Yin, Xiao-Meng; Pang, Nan; Chen, Chen; Wu, Teng-Hui; Zou, Xiao-Min; Yin, Fei (2018). "Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3". Frontiers in Genetics. 9. doi:10.3389/fgene.2018.00153. ISSN 1664-8021. PMC 5951959.
  6. ^ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J. (2011-06-01). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN". Journal of Medical Genetics. 48 (6): 383–389. doi:10.1136/jmg.2010.087114. ISSN 0022-2593. PMID 21493957. S2CID 39973123.
  7. ^ "OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1". omim.org. Retrieved 2022-05-20.