Syndactyly type 3

General Information (adopted from Orphanet):

Synonyms, Signs: RING AND LITTLE FINGER SYNDACTYLY
SYNDACTYLY OF FINGERS IV AND V
SDTY3
SD3
Syndactyly of fingers 4 and 5
Number of Symptoms 12
OrphanetNr: 93404
OMIM Id: 186100
ICD-10: Q70.1
UMLs: C1861366
MeSH: C538154
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
2
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
3
 (HPO:0009237) Short 5th finger 16 / 7739
4
 (HPO:0010705) 4-5 finger syndactyly 3 / 7739
5
 (HPO:0009162) Absent middle phalanx of 5th finger 2 / 7739
6
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Occasional [Orphanet] 69 / 7739
7
 (HPO:0001159) Syndactyly 140 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Complete bilateral syndactyly between 4th and 5th fingers 1 / 7739
10
 (OMIM) Short 5th finger with absent/rudimentary middle phalanx 1 / 7739
11
 (OMIM) Occasional fusion of distal phalanges 1 / 7739
12
 (OMIM) Unaffected feet 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In syndactyly type III, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or ...
Molecular genetics OMIM Paznekas et al. (2003) screened 17 families with oculodentodigital dysplasia and found mutations in the GJA1 gene (see 121014.0003-121014.0007) in all. All of their probands had syndactyly of at least the fourth and fifth fingers. In 4 individuals ...