TUKEL SYNDROME
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CFEOM-U FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH ULNAR HAND ANOMALIES |
| Number of Symptoms | 13 |
| OrphanetNr: | |
| OMIM Id: |
609428
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0007936) | Restrictive external ophthalmoplegia | 3 / 7739 | ||||
|
|
(HPO:0000508) | Ptosis | 459 / 7739 | ||||
|
|
(HPO:0007831) | Nonprogressive restrictive external ophthalmoplegia | 2 / 7739 | ||||
|
|
(HPO:0001491) | Congenital fibrosis of extraocular muscles | 9 / 7739 | ||||
|
|
(HPO:0001477) | Compensatory chin elevation | 5 / 7739 | ||||
|
|
(HPO:0009702) | Carpal synostosis | 26 / 7739 | ||||
|
|
(HPO:0004231) | Carpal bone aplasia | 5 / 7739 | ||||
|
|
(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
|
|
(HPO:0006210) | Postaxial oligodactyly | 3 / 7739 | ||||
|
|
(OMIM) | Bilateral postaxial oligodactyly/oligosyndactyly (right side affected greater than left) | 1 / 7739 | ||||
|
|
(OMIM) | Unilateral (right eye) involvement | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Nonprogressive restrictive ophthalmoplegia (superior rectus, inferior oblique, levator palpebralis dysfunction) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Tukel et al. (2005) described 6 affected individuals from a large consanguineous Turkish family who had nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than ... |