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

• 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 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

1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Multiple congenital anomalies hypotonia seizures syndrome". www.orpha.net. Retrieved 2022-05-20.
2. "Multiple congenital anomalies-hypotonia-seizures syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-20.
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. doi:10.1136/jmg.2010.087114. ISSN   1468-6244. PMID   21493957. S2CID   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. doi: 10.1186/s13023-020-01365-0 . ISSN   1750-1172. PMC   7099766 . 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. PMC   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. 48 (6): 383–389. doi:10.1136/jmg.2010.087114. ISSN   0022-2593. PMID   21493957. S2CID   39973123.
7. "OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1". omim.org. Retrieved 2022-05-20.