Syndactyly type 5

General Information (adopted from Orphanet):

Synonyms, Signs: SYNDACTYLY WITH METACARPAL AND METATARSAL FUSION
SD5
Postaxial syndactyly with metacarpal synostosis
Number of Symptoms 23
OrphanetNr: 93406
OMIM Id: 186300
ICD-10: Q70
UMLs: C1861348
MeSH: C538155
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:0010554) Cutaneous finger syndactyly 39 / 7739
2
 (HPO:0009473) Joint contracture of the hand 84 / 7739
3
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
4
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
5
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
6
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
7
 (HPO:0009779) 3-4 toe syndactyly 4 / 7739
8
 (HPO:0006185) Enlarged proximal interphalangeal joints 1 / 7739
9
 (HPO:0004692) 4-5 toe syndactyly 6 / 7739
10
 (HPO:0009702) Carpal synostosis 26 / 7739
11
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
12
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
13
 (HPO:0012385) Camptodactyly 113 / 7739
14
 (HPO:0005867) Fused fourth and fifth metacarpals 3 / 7739
15
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
16
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
17
 (HPO:0001032) Absent distal interphalangeal creases 9 / 7739
18
 (OMIM) 2-3 or 4-5 toe syndactyly 1 / 7739
19
 (OMIM) Variable cutaneous syndactyly 1 / 7739
20
 (MedDRA:10072883) Brachydactyly 153 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) 4-5 metacarpal fusion 1 / 7739
23
 (OMIM) Partial soft tissue syndactyly 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The characteristic finding in this rare type of syndactyly is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue ...
Molecular genetics OMIM In the family reported by Kemp and Ravn (1932), Kjaer et al. (2005) found a polyalanine expansion in the HOXD13 gene (142989.0008), a duplication of 21 basepairs that expanded the polyalanine repeat from 15 to 22 alanine residues. ...