Multiple congenital anomalies-hypotonia-seizures syndrome type 2

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12777

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

Q87.8

Inheritance

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

MCAHS2; Early infantile epileptic encephalopathy 20; MCAHS type 2

Summary

Multiple congenital anomalieshypotoniaseizures syndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone (hypotonia) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system. Specific symptoms (especially those not involving the nervous system) and severity vary from person to person, but most children develop severe developmental delay and intellectual disability. This condition is caused by mutations in the PIGA gene on the X chromosome and inheritance is X-linked recessive, so it typically affects boys.^[1] However, in some cases, MCAHS2 is not inherited from a parent and is the result of a new mutation occurring for the first time in a person with MCAHS2 (a de novo mutation).^[2] Treatment depends on the symptoms present and aims to control symptoms and increase quality of life. The long-term outlook and life expectancy varies depending on severity. Some children with MCAHS2 do not survive beyond infancy.^[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Duplicated collecting system		0000081
Elevated alkaline phosphatase	Greatly elevated alkaline phosphatase High serum alkaline phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ]	0003155
Hepatomegaly	Enlarged liver	0002240
Ichthyosis		0008064
Polyhydramnios	High levels of amniotic fluid	0001561
Seborrheic dermatitis		0001051
Vesicoureteral reflux		0000076
1%-4% of people have these symptoms
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Percent of people who have these symptoms is not available through HPO
Abnormality of skin pigmentation	Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly [ more ]	0001000
Abnormality of the pons		0007361
Absent septum pellucidum		0001331
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Birth length greater than 97th percentile		0003517
Central hypotonia		0011398
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Cerebral visual impairment		0100704
Coarse facial features	Coarse facial appearance	0000280
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Delayed myelination		0012448
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Elevated hepatic iron concentration	Increased iron concentration in liver	0012465
Epileptic encephalopathy		0200134
Flexion contracture	Flexed joint that cannot be straightened	0001371
Generalized myoclonic seizure		0002123
Gingival overgrowth	Gum enlargement	0000212
Gliosis		0002171
Global developmental delay		0001263
Hearing impairment	Deafness Hearing defect [ more ]	0000365
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hydrops fetalis		0001789
Hyperreflexia	Increased reflexes	0001347
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Hypsarrhythmia		0002521
Large fontanelles	Wide fontanelles	0000239
Large for gestational age	Birth weight > 90th percentile Birthweight > 90th percentile [ more ]	0001520
Lower limb spasticity		0002061
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Malar flattening	Zygomatic flattening	0000272
Microdontia	Decreased width of tooth	0000691
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Micropenis	Short penis Small penis [ more ]	0000054
Muscular hypotonia of the trunk	Low muscle tone in trunk	0008936
Narrow mouth	Small mouth	0000160
Neuronal loss in central nervous system	Loss of brain cells	0002529
Olfactory lobe agenesis	Olfactory lobe absence	0001341
Overfolded helix	Overfolded ears	0000396
Overgrowth	General overgrowth	0001548
Postnatal microcephaly		0005484
Prominent occiput	Prominent back of the skull Prominent posterior skull [ more ]	0000269
Short neck	Decreased length of neck	0000470
Small nail	Small nails	0001792
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Triangular mouth	Triangular shaped mouth	0000207
Upp Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Organizations Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease Epilepsy Action New Anstey House Gate Way Drive Yeadon, LEEDS LS19 7XY United Kingdom Telephone: 0113 210 8800 (UK) or +44 (0)113 210 8800 (international) Fax: 0113 391 0300 (UK) or +44 (0)113 391 0300 (international) E-mail: epilepsy@epilepsy.org.uk Website: https://www.epilepsy.org.uk/ Organizations Providing General Support Epilepsy Foundation 8301 Professional Place East Suite 230 Landover, MD 20785 Toll-free: 800-332-1000 (24/7 Helpline) Telephone: +1-301-459-3700 Fax: +1-301-577-2684 E-mail: contactus@efa.org Website: https://www.epilepsy.com/ en Español 1-866-748-8008 Learn more These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple congenital anomalies-hypotonia-seizures syndrome type 2. Click on the link to view a sample search on this topic. Selected Full-Text Journal Articles Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtshi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload Am J Med Genet A. 2014 Jan;16(1):17-28. Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria Am J Hum Genet. 2012 Feb 10; 90(2):295-300. Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD. The genotypic and phenotypic spectrum of PIGA deficiency Orphanet J Rare Dis. 2015 Feb 27; 10:23. References MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2. Online Mendelian Inheritance in Man (OMIM). May 22, 2014; https://www.omim.org/entry/300868. Accessed 10/2/2015. Xie LL, Song XJ, Li TY, Jiang L. A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins.. Brain Dev. March 1, 2018; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/29502866. Low KJ, James M, Sharples PM, Eaton M, Jenkinson S, Study DDD, Smithson SF. A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay. Seizure. March, 2018; Epub 2018 Jan 31:https://www.ncbi.nlm.nih.gov/pubmed/29414593. Rare Psychiatry News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Psychiatry News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Psychiatry News. All Rights Reserved. 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