Patterson-Stevenson-Fontaine syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PATTERSON-STEVENSON-FONTAINE SYNDROME Split foot deformity - mandibulofacial dysostosis Patterson-Stevenson syndrome |
| Number of Symptoms | 23 |
| OrphanetNr: | 2439 |
| OMIM Id: |
183700
|
| ICD-10: |
Q87.0 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Acrofacial dysostosis
-Rare bone disease -Rare developmental defect during embryogenesis Branchial arch or oral-acral syndrome -Rare developmental defect during embryogenesis Genetic branchial arch or oral-acral syndrome -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000278) | Retrognathia | 100 / 7739 | ||||
|
|
(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
|
|
(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
|
|
(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
|
|
(HPO:0000272) | Malar flattening | Frequent [Orphanet] | 277 / 7739 | |||
|
|
(HPO:0005321) | Mandibulofacial dysostosis | 7 / 7739 | ||||
|
|
(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Occasional [Orphanet] | 67 / 7739 | |||
|
|
(HPO:0000356) | Abnormality of the outer ear | 85 / 7739 | ||||
|
|
(HPO:0000405) | Conductive hearing impairment | Occasional [Orphanet] | 164 / 7739 | |||
|
|
(HPO:0011265) | Cleft earlobe | Occasional [Orphanet] | 12 / 7739 | |||
|
|
(HPO:0000598) | Abnormality of the ear | 98 / 7739 | ||||
|
|
(HPO:0000372) | Abnormality of the auditory canal | Occasional [Orphanet] | 49 / 7739 | |||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0001171) | Split hand | 72 / 7739 | ||||
|
|
(HPO:0001839) | Split foot | Very frequent [Orphanet] | 28 / 7739 | |||
|
|
(HPO:0100257) | Ectrodactyly | 27 / 7739 | ||||
|
|
(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
|
|
(HPO:0004060) | Trident hand | Occasional [Orphanet] | 13 / 7739 | |||
|
|
(OMIM) | Complete/occult posterior cleft palate | 1 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|