Synpolydactyly type 1

General Information (adopted from Orphanet):

Synonyms, Signs: SYNDACTYLY, TYPE II SYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED
SPD1
SD2a
Synpolydactyly, Vordingborg type
SPD, Vordingborg type
SD2, Vordingborg type
Number of Symptoms 25
OrphanetNr: 295195
OMIM Id: 186000
ICD-10: Q70.9
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndactyly type 2
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0001841) Preaxial foot polydactyly Rare [HPO:probinson] 24 / 7739
2
(HPO:0001830) Postaxial foot polydactyly 37 / 7739
3
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
4
(HPO:0100259) Postaxial polydactyly 85 / 7739
5
(HPO:0006101) Finger syndactyly 198 / 7739
6
(HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
7
(HPO:0100258) Preaxial polydactyly 39 / 7739
8
(HPO:0001177) Preaxial hand polydactyly 59 / 7739
9
(HPO:0100260) Mesoaxial polydactyly 3 / 7739
10
(HPO:0004692) 4-5 toe syndactyly 6 / 7739
11
(HPO:0006097) 3-4 finger syndactyly 7 / 7739
12
(HPO:0009185) Contracture of the proximal interphalangeal joint of the 5th finger 3 / 7739
13
(HPO:0006042) Y-shaped metacarpals 3 / 7739
14
(HPO:0001501) 6 metacarpals 2 / 7739
15
(HPO:0006159) Mesoaxial hand polydactyly 5 / 7739
16
(HPO:0008083) 2nd-5th toe middle phalangeal hypoplasia 1 / 7739
17
(OMIM) 6 metatarsals 1 / 7739
18
(OMIM) 4th-5th toe syndactyly 1 / 7739
19
(OMIM) Triangular distal phalanges 1 / 7739
20
(OMIM) 5th finger clino-camptodactyly 1 / 7739
21
(OMIM) Normal tarsal 3 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Syndactyly, 3rd-4th finger 1 / 7739
24
(OMIM) Normal carpals 2 / 7739
25
(OMIM) Partial or complete duplication of digit in syndactylous web 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Synpolydactyly, or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal ...
Clinical Description OMIM Thomsen (1927) described an extensive pedigree in which 31 males and 11 females in 7 generations had syndactyly type II. Other kindreds were reported by Alvord (1947) and Pipkin and Pipkin (1946) among others. Cross et al. (1968) ...
Genotype-Phenotype Correlations OMIM Malik and Grzeschik (2008) reviewed all the clinical variants occurring in 32 well-documented synpolydactyly families and grouped them into 3 categories: typical SPD features, minor variants, and unusual phenotypes. They demonstrated that, based on cases of SPD associated ...
Molecular genetics OMIM Muragaki et al. (1996) selected 3 possible candidate genes for SPD in the HOXD region on chromosome 2q31-q32 on the basis of their expression in the distal limb bud. Sequencing of the homeodomains of the 3 genes, each ...