Ectrodactyly - polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 1892
OMIM Id: 225290
ICD-10: Q74.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
2
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
3
 (HPO:0010442) Polydactyly 69 / 7739
4
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
5
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
6
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
7
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
8
 (HPO:0100257) Ectrodactyly 27 / 7739
9
 (HPO:0001839) Split foot 28 / 7739
10
 (HPO:0001171) Split hand 72 / 7739
11
 (HPO:0009700) Finger symphalangism Frequent [Orphanet] 55 / 7739
12
 (HPO:0100259) Postaxial polydactyly 85 / 7739
13
 (OMIM) Absence of phalanges 1 / 7739
14
 (OMIM) Cleft hand/foot 1 / 7739
15
 (OMIM) Lobster-claw hand/foot 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: