Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome
Specialty	Medical genetics
Symptoms	Hypotonia, congenital anomalies and seizures
Complications	Early death
Usual onset	Birth
Duration	Life-long (short life span)
Types	1, 2, 3, 4
Causes	Genetic mutation
Prevention	none
Prognosis	Bad
Frequency	very 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

↑ 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.
↑ "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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ "OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1" (in en-us). https://omim.org/entry/614080.

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[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.

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