Brachydactyly type C

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY, HAWS TYPE
BDC
Number of Symptoms 47
OrphanetNr: 93384
OMIM Id: 113100
ICD-10: Q73.8
UMLs: C1300268
C1862103
MeSH: C537093
MedDRA:
Snomed: 389169005

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0009349) Enlarged epiphysis of the proximal phalanx of the 3rd finger Common [HPO:curators] 1 / 7739
2
 (HPO:0009700) Finger symphalangism Occasional [Orphanet] 55 / 7739
3
 (HPO:0009464) Ulnar deviation of the 2nd finger Typical [HPO:curators] 6 / 7739
4
 (HPO:0002750) Delayed skeletal maturation occasional [HPO:curators] 250 / 7739
5
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
6
 (HPO:0001772) Talipes equinovalgus occasional [HPO:curators] 7 / 7739
7
 (HPO:0009527) Enlarged epiphysis of the proximal phalanx of the 2nd finger Common [HPO:curators] 1 / 7739
8
 (HPO:0009324) Enlarged epiphysis of the middle phalanx of the 3rd finger Common [HPO:curators] 1 / 7739
9
 (HPO:0009495) Pseudoepiphyses of the 2nd finger Hallmark [HPO:curators] 2 / 7739
10
 (HPO:0009587) Triangular shaped proximal phalanx of the 2nd finger Common [HPO:curators] 1 / 7739
11
 (HPO:0010442) Polydactyly 69 / 7739
12
 (HPO:0009516) Enlarged epiphysis of the middle phalanx of the 2nd finger Common [HPO:curators] 1 / 7739
13
 (HPO:0010034) Short 1st metacarpal Common [HPO:curators] 19 / 7739
14
 (HPO:0009331) Triangular epiphysis of the middle phalanx of the 3rd finger Common [HPO:curators] 1 / 7739
15
 (HPO:0009417) Pseudoepiphyses of the 3rd finger Hallmark [HPO:curators] 1 / 7739
16
 (HPO:0009461) Short 3rd finger Hallmark [HPO:probinson] 1 / 7739
17
 (HPO:0001762) Talipes equinovarus occasional [HPO:curators] 309 / 7739
18
 (HPO:0009356) Triangular epiphysis of the proximal phalanx of the 3rd finger Common [HPO:curators] 1 / 7739
19
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
20
 (HPO:0009463) Ulnar deviation of the 3rd finger Typical [HPO:curators] 3 / 7739
21
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
22
 (HPO:0009575) Triangular shaped middle phalanx of the 2nd finger Common [HPO:curators] 2 / 7739
23
 (HPO:0010259) Cone-shaped epiphyses of the middle phalanges of the hand Hallmark [HPO:curators] 4 / 7739
24
 (HPO:0006206) Hypersegmentation of proximal phalanx of second finger 1 / 7739
25
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
26
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
27
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
28
 (HPO:0003067) Madelung deformity 9 / 7739
29
 (HPO:0009536) Short 2nd finger Hallmark [HPO:probinson] 6 / 7739
30
 (HPO:0009436) Triangular shaped middle phalanx of the 3rd finger Common [HPO:curators] 1 / 7739
31
 (HPO:0011929) Hypersegmentation of proximal phalanx of third finger 1 / 7739
32
 (HPO:0005819) Short middle phalanx of finger Hallmark [HPO:curators] 28 / 7739
33
 (HPO:0009534) Triangular epiphysis of the proximal phalanx of the 2nd finger Common [HPO:curators] 1 / 7739
34
 (HPO:0009456) Triangular shaped proximal phalanx of the 3rd finger Common [HPO:curators] 1 / 7739
35
 (HPO:0009523) Triangular epiphysis of the middle phalanx of the 2nd finger Common [HPO:curators] 1 / 7739
36
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] Common [HPO:curators] 288 / 7739
37
 (HPO:0004684) Talipes valgus Occasional [Orphanet] 28 / 7739
38
 (HPO:0004322) Short stature Occasional [Orphanet] frequent [HPO:curators] 1232 / 7739
39
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
40
 (OMIM) Short 2nd, 3rd middle phalanges 1 / 7739
41
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
42
 (OMIM) Hypersegmentation of proximal and middle 2nd, 3rd phalanges 1 / 7739
43
 (OMIM) Ulnar deviation of 2nd, 3rd finger 1 / 7739
44
 (OMIM) Short 1st, 4th, 5th metacarpals 1 / 7739
45
 (OMIM) Disproportionate shortening of 2nd and 3rd fingers 1 / 7739
46
 (OMIM) Limited flexion in distal interphalangeal joints 1 / 7739
47
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: