Rare Cardiology News

Disease Profile

Multiple congenital anomalies-hypotonia-seizures syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Multiple congenital anomalies-hypotonia-seizures syndrome 1 ; MCAHS1; PIGN-CDG;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 280633

Definition
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (incl. gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.

Visit the Orphanet disease page for more resources.

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
80%-99% of people have these symptoms
Seizure
0001250
Severe global developmental delay
0011344
Severe muscular hypotonia
Severely decreased muscle tone
0006829
30%-79% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Choreoathetosis
0001266
Coarse facial features
Coarse facial appearance
0000280
Delayed myelination
0012448
Feeding difficulties in infancy
0008872
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hoarse cry
0001615
Hyperreflexia
Increased reflexes
0001347
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Macrocephaly at birth
Big skull present at birth
Big skull present since birth
Large skull present at birth
Large skull present since birth

[ more ]

0004488
Patent foramen ovale
0001655
Prominent palatine ridges
0010291
Prominent superior crus of antihelix
0011247
Short foot
Short feet
Small feet

[ more ]

0001773
Small hand
Disproportionately small hands
0200055
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Tremor
0001337
5%-29% of people have these symptoms
Abnormal posterior cranial fossa morphology
0000932
Abnormal renal collecting system morphology
0004742
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Anal atresia
Absent anus
0002023
Anal stenosis
Narrowing of anal opening
0002025
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
0002616
Asymmetric crying face
0011333
Athetosis
Involuntary writhing movements in fingers, hands, toes, and feet
0002305
Blepharitis
Inflammation of eyelids
0000498
Cerebellar atrophy
Degeneration of cerebellum
0001272
Congenital diaphragmatic hernia
0000776
Congenital megaureter
0008676
Deep longitudinal plantar crease
0004681
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Elevated alpha-fetoprotein
0006254
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Esotropia
Inward turning cross eyed
0000565
Fair hair
Blond hair
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)

[ more ]

0002286
Flexion contracture of toe
0005830
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Generalized muscle weakness
0003324
Gingival overgrowth
Gum enlargement
0000212
Hydrocele testis
0000034
Hydronephrosis
0000126
Hydroureter
0000072
Hyperpigmented/hypopigmented macules
0007441
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypertrophy of the urinary bladder
0008635
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail

[ more ]

0001804
Increased nuchal translucency
0010880
Large fleshy ears
0002265
Microretrognathia
Small retruded chin
0000308
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Narrow mouth
Small mouth
0000160
Overfolded helix
Overfolded ears
0000396
Partial absence of cerebellar vermis

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.

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.

    Rare Cardiology News