Camptobrachydactyly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 1319
OMIM Id: 114150
ICD-10: Q74.8
UMLs: C1861963
MeSH: C537967
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[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:0001153) Septate vagina 6 / 7739
2
 (HPO:0000020) Urinary incontinence 75 / 7739
3
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
4
 (HPO:0001831) Short toe 52 / 7739
5
 (HPO:0001161) Hand polydactyly 71 / 7739
6
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
7
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
8
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
9
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
10
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
11
 (HPO:0005879) Congenital finger flexion contractures 3 / 7739
12
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
13
 (HPO:0010442) Polydactyly 69 / 7739
14
 (HPO:0001159) Syndactyly 140 / 7739
15
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
16
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
17
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (OMIM) Brachydactyly of hands and feet 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: