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Disease Profile
Multiple congenital anomalies-hypotonia-seizures syndrome
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.
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Age of onset
Infancy
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.
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.
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.
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)
Multiple congenital anomalies-hypotonia-seizures syndrome 1 ; MCAHS1; PIGN-CDG;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Orpha Number: 280633
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 | ||
| 0001250 | ||
| Severe global |
0011344 | |
| Severe muscular |
Severely decreased muscle tone
|
0006829 |
| 30%-79% of people have these symptoms | ||
|
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 |
| 0000776 | ||
| Congenital megaureter | 0008676 | |
| Deep longitudinal plantar crease | 0004681 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| Elevated |
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 |
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 |
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 |
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 | OrganizationsSupport 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 moreThese 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
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