Pfeiffer syndrome type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 33 |
| OrphanetNr: | 93259 |
| OMIM Id: |
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| ICD-10: |
Q87.0 |
| 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 dominant Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Pfeiffer syndrome
-Rare bone disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000520) | Proptosis | Very frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000453) | Choanal atresia | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000348) | High forehead | Very frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0002676) | Cloverleaf skull | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000372) | Abnormality of the auditory canal | Frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002516) | Increased intracranial pressure | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0010109) | Short hallux | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Very frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0010055) | Broad hallux | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0002023) | Anal atresia | Occasional [Orphanet] | 135 / 7739 | |||
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(HPO:0002779) | Tracheomalacia | Frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0001601) | Laryngomalacia | Frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0002410) | Aqueductal stenosis | Frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(HPO:0002308) | Arnold-Chiari malformation | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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