Pai syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PAI SYNDROME Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps |
| Number of Symptoms | 25 |
| OrphanetNr: | 1993 |
| OMIM Id: |
155145
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| ICD-10: |
Q87.8 |
| 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: | 37 cases [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Frontonasal dysplasia
-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:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000163) | Abnormality of the oral cavity | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0000337) | Broad forehead | 116 / 7739 | ||||
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(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0100582) | Nasal polyposis | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0010285) | Oral synechia | Frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0002084) | Encephalocele | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
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(HPO:0000161) | Median cleft lip | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000366) | Abnormality of the nose | Occasional [Orphanet] | 56 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0006866) | Midline central nervous system lipomas | 1 / 7739 | ||||
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(HPO:0100835) | Benign neoplasm of the central nervous system | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0010609) | Skin tags | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(OMIM) | Nasal mucosal polyps | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Skin tags containing cartilage on forehead | 1 / 7739 | ||||
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(OMIM) | Facial skin polyps | 1 / 7739 | ||||
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(OMIM) | Median cleft upper lip | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007). |
| Clinical Description OMIM |
Pai syndrome is a rare disorder combining median cleft upper lip and polyps of the facial skin and nasal mucosa (Sharma, 1974; Ponniah, 1977; Nakamura et al., 1985; Pai et al., 1987). In addition, midline lipomas of the ... |