Acro-osteolysis-keloid-like lesions-premature aging syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Premature aging syndrome, Penttinen type |
| Number of Symptoms | 28 |
| OrphanetNr: | 363665 |
| OMIM Id: |
601812
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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: |
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| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic progeroid syndrome
-Rare genetic disease Premature aging -Rare genetic disease -Rare skin disease Progeroid syndrome -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0002645) | Wormian bones | rare [HPO:skoehler] | 65 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | 117 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000233) | Thin vermilion border | 124 / 7739 | ||||
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(HPO:0010539) | Thin calvarium | 2 / 7739 | ||||
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(HPO:0000270) | Delayed cranial suture closure | 33 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0000460) | Narrow nose | 14 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0002925) | Thyroid-stimulating hormone excess | 12 / 7739 | ||||
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(HPO:0002650) | Scoliosis | rare [HPO:skoehler] | 705 / 7739 | |||
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(HPO:0009771) | Osteolytic defects of the phalanges of the hand | 17 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0003100) | Slender long bone | 45 / 7739 | ||||
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(HPO:0001507) | Growth abnormality | 36 / 7739 | ||||
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(HPO:0008070) | Sparse hair | 94 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | 216 / 7739 | ||||
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(HPO:0100578) | Lipoatrophy | 30 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(OMIM) | Normal linear growth | 2 / 7739 | ||||
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(OMIM) | Hard, confluent skin lesions resembling juvenile hyaline fibromatosis | 1 / 7739 | ||||
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(OMIM) | Normal intellect | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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