Cleft lip/palate - deafness - sacral lipoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Lowry-Yong syndrome |
| Number of Symptoms | 13 |
| OrphanetNr: | 2003 |
| OMIM Id: |
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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: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Orofacial clefting syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0005273) | Absent nasal septal cartilage | Very frequent [Orphanet] | 4 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000202) | Oral cleft | Very frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0100559) | Lower limb asymmetry | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0002435) | Meningocele | Very frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001012) | Multiple lipomas | Very frequent [Orphanet] | 43 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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