CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 12 |
| OrphanetNr: | |
| OMIM Id: |
211930
|
| 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:0000454) | Flared nostrils | 11 / 7739 | ||||
|
|
(HPO:0000271) | Abnormality of the face | 108 / 7739 | ||||
|
|
(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
|
|
(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
|
|
(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
|
|
(HPO:0001765) | Hammertoe | 63 / 7739 | ||||
|
|
(HPO:0001166) | Arachnodactyly | 62 / 7739 | ||||
|
|
(HPO:0006644) | Thoracic dysplasia | 12 / 7739 | ||||
|
|
(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
|
|
(HPO:0001643) | Patent ductus arteriosus | 228 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Broad | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Goodman et al. (1972) described this combination in 2 sisters and a brother from unaffected first-cousin, Iranian-Jewish parents. The brother was referred at age 19 for possible Marfan syndrome. At age 7 patent ductus arteriosus (see 607411) was ... |