Oro-mandibular-limb hypogenesis syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Oroacral syndrome |
| Number of Symptoms | 5 |
| OrphanetNr: | 2749 |
| OMIM Id: |
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| ICD-10: |
Q87.5 |
| 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 |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dysostosis with limb and face anomalies as a major feature
-Rare bone disease -Rare developmental defect during embryogenesis Oromandibular-limb anomalies syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease |
Symptom Information:
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(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0010650) | Hypoplasia of the premaxilla | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0009466) | Radial deviation of finger | Frequent [Orphanet] | 101 / 7739 | |||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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