TARSAL-CARPAL COALITION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED
Number of Symptoms 20
OrphanetNr:
OMIM Id: 186570
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:0002967) Cubitus valgus occasional [HPO] 49 / 7739
2
(HPO:0006152) Proximal symphalangism of hands common [HPO] 9 / 7739
3
(HPO:0001204) Distal symphalangism of hands occasional [HPO] 13 / 7739
4
(HPO:0010034) Short 1st metacarpal common [HPO] 19 / 7739
5
(HPO:0001156) Brachydactyly syndrome 180 / 7739
6
(HPO:0009381) Short finger 45 / 7739
7
(HPO:0003041) Humeroradial synostosis occasional [HPO] 19 / 7739
8
(HPO:0009702) Carpal synostosis common [HPO] 26 / 7739
9
(HPO:0009466) Radial deviation of finger common [HPO] 101 / 7739
10
(HPO:0008368) Tarsal synostosis common [HPO] 21 / 7739
11
(HPO:0003070) Elbow ankylosis 8 / 7739
12
(HPO:0006147) Progressive fusion 2nd-5th pip joints 1 / 7739
13
(MedDRA:10058668) Clinodactyly 91 / 7739
14
(MedDRA:10072883) Brachydactyly 153 / 7739
15
(HPO:0030084) Clinodactyly 90 / 7739
16
(OMIM) Symphalangism 3 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Normal hearing 9 / 7739
19
(OMIM) Stiff 5th proximal interphalangeal (PIP) joint (birth) 1 / 7739
20
(OMIM) Normal height 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tarsal-carpal coalition syndrome (TCC) is an autosomal dominant disorder characterized by fusion of the carpals, tarsals, and phalanges; short first metacarpals causing brachydactyly; and humeroradial fusion (Gregersen and Petersen, 1977; Drawbert et al., 1985). At birth, all affected ...
Molecular genetics OMIM In affected members of 3 different families with TCC, including the family reported by Drawbert et al. (1985), Dixon et al. (2001) identified heterozygous mutations in the NOG gene (602991.0006-601991.0008), demonstrating that TCC is allelic to SYM1.