Tarsal-carpal coalition syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 1412
OMIM Id: 186400
186570
ICD-10: Q74.8
UMLs: C1861305
MeSH: C536943
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with synostosis or other joint formation defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
2
 (HPO:0003048) Radial head subluxation 6 / 7739
3
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
4
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
5
 (HPO:0003028) Abnormality of the ankles Very frequent [Orphanet] 14 / 7739
6
 (HPO:0005880) Metacarpophalangeal synostosis 2 / 7739
7
 (HPO:0010049) Short metacarpal 99 / 7739
8
 (HPO:0008368) Tarsal synostosis 21 / 7739
9
 (HPO:0009702) Carpal synostosis 26 / 7739
10
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
11
 (HPO:0001798) Anonychia 28 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: