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 (MCAHS) 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
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 PIGN (gene), on chromosome 18. It is caused by a C to A nucleotide substitution.[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". www.orpha.net. Retrieved 2022-05-20.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Multiple congenital anomalies-hypotonia-seizures syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on September 22, 2020. Retrieved 2022-05-20.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1". omim.org. Retrieved 2022-05-20.