Rare Pediatrics News
Disease Profile
Megalocornea-intellectual disability 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.
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.
0
Age of onset
Neonatal
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)
MMR syndrome; Neuhauser syndrome
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2479
Definition
Megalocorneaintellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia , varying degrees of intellectual disability, psychomotor/developmental delay , seizures , and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
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 | ||
| Abnormality of |
0010978 | |
| Frontal bossing | 0002007 | |
| Global |
0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Megalocornea |
Enlarged cornea
|
0000485 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
| 30%-79% of people have these symptoms | ||
| Abnormal anterior chamber morphology | 0000593 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypoplasia of the iris |
Underdeveloped iris
|
0007676 |
| Iridodonesis | 0100693 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Metatarsus valgus | 0010508 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
| 0002650 | ||
| 0001250 | ||
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
| 5%-29% of people have these symptoms | ||
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| 0001251 | ||
| 0002353 | ||
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
| Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Osteopenia | 0000938 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
| Sensorineural hearing impairment | 0000407 | |
| Short philtrum | 0000322 | |
| Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
| Percent of people who have these symptoms is not available through HPO | ||
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
| 0000007 | ||
| Bifid uvula | 0000193 | |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 |
| Delayed |
0002188 | |
| 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 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Genu recurvatum |
Back knee
Knee hyperextension
[ more ] |
0002816 |
| Genu valgum |
Knock kn
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. Where to Start
In-Depth Information
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