CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
10
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
218530
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
2
|
(HPO:0001841)
|
Preaxial foot polydactyly |
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0009576)
|
Absent middle phalanx of 2nd finger |
|
|
|
|
2 / 7739
|
|
4
|
(HPO:0009162)
|
Absent middle phalanx of 5th finger |
|
|
|
|
2 / 7739
|
|
5
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
6
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
8
|
(OMIM)
|
Synchondrosis of basal skull bones |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Absent middle phalanges of fingers 2 and 5 |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Premature craniosynostosis |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |