Medicine:Multiple congenital anomalies-hypotonia-seizures syndrome
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| 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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