Oculomaxillofacial dysostosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Richieri-Costa-Gorlin syndrome |
| Number of Symptoms | 21 |
| OrphanetNr: | 1794 |
| OMIM Id: |
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| ICD-10: |
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| UMLs: |
C1838348 |
| MeSH: |
C537736 |
| 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: |
Dysostosis with predominant craniofacial involvement
-Rare bone disease -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0002006) | Facial cleft | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000492) | Abnormality of the eyelid | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000430) | Underdeveloped nasal alae | Frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000366) | Abnormality of the nose | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000161) | Median cleft lip | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0200102) | Sparse or absent eyelashes | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Occasional [Orphanet] | 103 / 7739 | |||
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(HPO:0004279) | Short palm | Occasional [Orphanet] | 323 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0003063) | Abnormality of the humerus | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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