SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL

General Information (adopted from Orphanet):

Synonyms, Signs: CALCANEONAVICULAR COALITION
Number of Symptoms 10
OrphanetNr:
OMIM Id: 186400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
2
 (HPO:0010049) Short metacarpal 99 / 7739
3
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
4
 (HPO:0009702) Carpal synostosis 26 / 7739
5
 (HPO:0003048) Radial head subluxation 6 / 7739
6
 (HPO:0008368) Tarsal synostosis 21 / 7739
7
 (HPO:0001798) Anonychia 28 / 7739
8
 (OMIM) Absent phalanges 2 / 7739
9
 (OMIM) Metacarpophalangeal synostoses 1 / 7739
10
 (OMIM) Digital synostosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: