PEHO-like syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY INFANTILE CEREBELLOOPTIC ATROPHY PEHO-LIKE SYNDROME, INCLUDED |
Number of Symptoms | 31 |
OrphanetNr: | 99807 |
OMIM Id: |
260565
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Epileptic syndrome
-Rare genetic disease -Rare neurologic disease Syndromic lymphedema -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000194) | Open mouth | 70 / 7739 | ||||
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(HPO:0000293) | Full cheeks | 85 / 7739 | ||||
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(HPO:0010804) | Tented upper lip vermilion | 47 / 7739 | ||||
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(HPO:0000341) | Narrow forehead | 96 / 7739 | ||||
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(HPO:0000278) | Retrognathia | 100 / 7739 | ||||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000253) | Progressive microcephaly | 37 / 7739 | ||||
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(HPO:0007965) | Undetectable visual evoked potentials | 3 / 7739 | ||||
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(HPO:0002187) | Intellectual disability, profound | 44 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0010741) | Edema of the lower limbs | 34 / 7739 | ||||
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(HPO:0012398) | Peripheral edema | 12 / 7739 | ||||
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(HPO:0007514) | Edema of the dorsum of hands | 7 / 7739 | ||||
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(HPO:0006829) | Severe muscular hypotonia | 29 / 7739 | ||||
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(OMIM) | Relative preservation of Purkinje cells, but they are deformed and disaligned | 2 / 7739 | ||||
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(OMIM) | 'Pear-shaped' face | 2 / 7739 | ||||
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(OMIM) | Optic atrophy by 2 years of age | 2 / 7739 | ||||
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(OMIM) | MRI shows dysmyelination | 2 / 7739 | ||||
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(OMIM) | Tapered digits | 4 / 7739 | ||||
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(OMIM) | Curved upper lip | 2 / 7739 | ||||
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(OMIM) | Visual fixation absent from birth or lost in first months of life | 2 / 7739 | ||||
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(OMIM) | Cerebellar atrophy, progressive | 6 / 7739 | ||||
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(OMIM) | Absent cortical responses of somatosensory evoked potentials | 2 / 7739 | ||||
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(OMIM) | EEG shows hypsarrhythmia | 4 / 7739 | ||||
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(OMIM) | Neuropathology shows severe neuronal loss in the inner granular layer of the cerebellum | 2 / 7739 | ||||
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(OMIM) | Lack of developmental development | 2 / 7739 | ||||
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(OMIM) | Brain stem atrophy, progressive | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Salonen et al. (1991) identified a new form of infantile progressive encephalopathy in 14 patients, 8 of whom were female, from 11 families. The clinical signs included severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperreflexia, transient or ... |