Brachydactyly-syndactyly, Zhao type

General Information (adopted from Orphanet):

Synonyms, Signs: BDSD
Number of Symptoms 6
OrphanetNr: 93409
OMIM Id: 610713
ICD-10: Q73.8
UMLs:
MeSH:
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: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0009700) Finger symphalangism Frequent [Orphanet] 55 / 7739
2
(HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
3
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
4
(HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
5
(HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
6
(HPO:0001822) Hallux valgus Frequent [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zhao et al. (2007) described a Han Chinese family in which 23 affected individuals in 6 generations exhibited a complex brachydactyly-syndactyly syndrome. Digital photographs and radiographs were taken for 16 and 13 of them, respectively. Most of the ...
Molecular genetics OMIM In the large Han Chinese family with brachydactyly-syndactyly described by them, Zhao et al. (2007) found deletion of 21 basepairs in the HOXD13 gene (142989.0010) in affected members. The deletion was located in the imperfect GCN (where N ...