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Disease Profile
PEHO 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.
Unknown
Age of onset
Infancy
ICD-10
G31.8
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)
Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy; Infantile cerebellooptic atrophy
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Orpha Number: 2836
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 | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] |
0000496 |
Abnormality of upper lip | 0000177 | |
Biparietal narrowing | 0004422 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Drowsiness |
Sleepy
|
0002329 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
External ear malformation | 0008572 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Global |
0001263 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypsarrhythmia | 0002521 | |
Infantile spasms | 0012469 | |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Macrotia |
Large ears
|
0000400 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Optic atrophy | 0000648 | |
Severe muscular |
Severely decreased muscle tone
|
0006829 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
30%-79% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Atrophy/Degeneration affecting the brainstem | 0007366 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Palpebral edema |
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ] |
0100540 |
Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] |
0010741 |
Peripheral edema | 0012398 | |
Porencephalic cyst |
Cavity within brain
|
0002132 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Ventriculomegaly | 0002119 | |
5%-29% of people have these symptoms | ||
Arthrogryposis multiplex congenita | 0002804 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Developmental stagnation | 0007281 | |
Edema of the dorsum of feet | 0012098 | |
Edema of the dorsum of hands | 0007514 | |
Feeding difficulties in infancy | 0008872 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Infantile |
0007105 | |
Intellectual disability, profound |
IQ less than 20
|
0002187 |
Myoclonus | 0001336 | |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Neuronal loss in |
Loss of brain cells
|
0002529 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Peripheral dysmyelination | 0003469 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Progressive microcephaly |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
0001250 | ||
Tented upper lip vermilion |
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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