Multiple congenital anomalies-hypotonia-seizures syndrome explained

Multiple congenital anomalies-hypotonia-seizures syndrome
Symptoms:	Hypotonia, congenital anomalies and seizures
Onset:	Birth
Duration:	Life-long (short life span)
Types:	1, 2, 3, 4
Risk:	-->
Prevention:	none
Management:	-->
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]

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Multiple congenital anomalies hypotonia seizures syndrome . 2022-05-20 . www.orpha.net . en.
2. Web site: Multiple congenital anomalies-hypotonia-seizures syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-20 . rarediseases.info.nih.gov . en.
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 . 10.1136/jmg.2010.087114 . 1468-6244 . 21493957. 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 . 10.1186/s13023-020-01365-0 . 1750-1172 . 7099766 . 32220244 . free .
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 . 10.3389/fgene.2018.00153 . 1664-8021. free . 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 . en . 48 . 6 . 383–389 . 10.1136/jmg.2010.087114 . 0022-2593 . 21493957. 39973123 .
7. Web site: OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 . 2022-05-20 . omim.org . en-us.