Medicine:Multiple congenital anomalies-hypotonia-seizures syndrome

From HandWiki
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

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

General

  • Hypotonia
  • Widespread developmental delays
  • Early-onset seizures

Heart

  • Patent foramen ovale
  • Atrial septal defect
  • Patent ductus arteriosus

Genito-urinary

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

Gastrointestinal

  • Gastroesophageal reflux
  • Anal stenosis
  • Imperforate anus
  • Ano-vestibular fistula

Facial

  • Coarse face
  • Occiput prominence
  • Bitemporal narrowing
  • Epicanthal folds
  • Hypertelorbitism
  • Nystagmus
  • Strabismus
  • Distracted eyes
  • Low-set prominent ears
  • Nasal bridge depression
  • Upward-facing nose
  • Long philtrum
  • Large, constantly open mouth
  • Thin lips
  • High palate
  • Micro/retrognathia

Auricular

  • Auricle abnormalities

Causes

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

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

References

  1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Multiple congenital anomalies hypotonia seizures syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280633. 
  2. ↑ "Multiple congenital anomalies-hypotonia-seizures syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/12781/multiple-congenital-anomalies-hypotonia-seizures-syndrome. 
  3. ↑ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit et al. (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. https://doi.org/10.1136/jmg.2010.087114. 
  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. 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. 
  6. ↑ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit et al. (2011-06-01). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN" (in en). Journal of Medical Genetics 48 (6): 383–389. doi:10.1136/jmg.2010.087114. ISSN 0022-2593. PMID 21493957. https://jmg.bmj.com/content/48/6/383. 
  7. ↑ "OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1" (in en-us). https://omim.org/entry/614080. 



Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Multiple_congenital_anomalies-hypotonia-seizures_syndrome&oldid=3273251"