Synpolydactyly type 2

General Information (adopted from Orphanet):

Synonyms, Signs: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
SPD2
SPD, Debeer type
SD2b
Synpolydactyly, Debeer type
SD2, Debeer type
Number of Symptoms 13
OrphanetNr: 295197
OMIM Id: 608180
ICD-10: Q70
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
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:0010621) Cutaneous syndactyly of toes 36 / 7739
2
 (HPO:0009700) Finger symphalangism 55 / 7739
3
 (HPO:0010442) Polydactyly 69 / 7739
4
 (HPO:0001770) Toe syndactyly 149 / 7739
5
 (HPO:0001440) Metatarsal synostosis 4 / 7739
6
 (HPO:0008368) Tarsal synostosis 21 / 7739
7
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
8
 (HPO:0001159) Syndactyly 140 / 7739
9
 (HPO:0009701) Metacarpal synostosis 4 / 7739
10
 (HPO:0009702) Carpal synostosis 26 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Symmetric, bilateral malformations 1 / 7739
13
 (OMIM) Synpolydactyly 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Smet et al. (1996) reported a Belgian family in which a father and daughter had a syndrome with metatarsal fusion, metacarpal fusion, and synpolydactyly between the third and fourth fingers. Debeer et al. (1998) reported a second ...
Molecular genetics OMIM By molecular analysis of the reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family described by De Smet et al. (1996), Debeer et al. (2002) found involvement of an alternatively spliced exon of the fibulin-1 gene on chromosome 22q13 ...