Synpolydactyly, abbreviated SPD, is a joint presentation of syndactyly, which is fusion of digits, and polydactyly, which is the production of supernumerary digits. It affects both the hands and the feet and often occurs symmetrically on both sides of the body. It is often the result of a mutation in the HOXD13 gene, since HOXD genes are necessary in early limb bud development and in the specification of the limbs. The source article is a short entry, so details such as inheritance pattern, prevalence and management are not recorded here and remain open for a later depth pass.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Orphadata (Orphanet): Orphadata cross-references for ORPHA:93403 Synpolydactyly
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q70.0", "Source": "ICD-10"
2. National Cancer Institute (NCI Thesaurus): Synpolydactyly - NCI Thesaurus concept C75003
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
A rare genetic disorder characterized by malformations in the hands and feet.
3. Synpolydactyly (Wikipedia)
Lead paragraphQuote, Lead paragraph
result of a mutation in the HOXD13 gene
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