DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for syndactyly — screening already-approved drugs against its 9-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSyndactyly maps to a 9-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for syndactyly is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
TUB like protein 1 (TULP1) — TULP1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet n,n-dimethyloctylammoniodrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2FIM · 1.9 Å · ligand 3-(N,N-DIMETHYLOCTYLAMMONIO)PROPANESULFONATE (3DP). Experimental structure, not a prediction.
What the evidence adds up to
Syndactyly is the most common congenital hand defect, with an estimated incidence ranging from 1 in 2,500 live births. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait, though more severe types can show autosomal recessive or X-linked inheritance. A 2012 review describes nine phenotypically distinct non-syndromic types, an increase from the original 1978 classification. The same review notes that the condition involves a wide range of genes and signalling pathways, principally the Zone of Polarizing Activity and the Shh pathway, and that new genes continue to be found both linked and not linked to each malformation, complicating classification. A 1986 family study of type II syndactyly (synpolydactyly) with 16 affected members across six generations confirmed autosomal dominant inheritance with incomplete penetrance and skipped generations. A 1981 German paper traced isolated syndactyly back through four generations in one family.
Management is surgical, with a technique described as unchanged for several decades in the 2012 review. A 1991 paper reports a new method using graduated steps in a special apparatus with skeletal fixation of the phalanges by wires, followed by skin grafting, in patients aged 5 months to 30 years. Of 60 operations, 56 were rated good, 3 satisfactory, and 1 unsatisfactory. A 1987 analysis of 20 cases at a single hospital reported that reconstructive procedures restored hand function in more than 90% of patients. A 2020 case report describes complete complex type-4 syndactyly of all digits with an associated atrial septal defect (left greater than right), but provides no treatment outcome data.
What is still missing are any non-surgical treatments. The 2012 review speculates that future development may bring gene manipulation therapy, but no such therapy is described in any of these abstracts. No drug treatment for syndactyly is mentioned in any abstract. There are no randomised trials, no controlled comparisons of surgical techniques, and no data on long-term functional or aesthetic outcomes beyond the immediate postoperative period. Patient stratification by genetic subtype is not attempted in any of the surgical series.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Open Orthopaedics Journal · 2012 · 96 citations · open access
The Epidemiology, Genetics and Future Management of Syndactyly
AbstractSyndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance.There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary.Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway.Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience.Currently, management is surgical, with a technique unchanged for several decades, although future development will hopefully bring alternatives in both earlier diagnosis and gene manipulation for therapy.
Journal of Medical Genetics · 1986 · 14 citations · open access
Type II syndactyly or synpolydactyly.
AbstractA new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance and the frequent occurrence of non-manifesting heterozygotes resulting in 'skipped generations'.
European Journal of Pediatric Surgery · 1981 · 1 citations
Ätiopathogenetische und therapeutische Gesichtspunkte zur Syndaktylie der Hand<sup>1</sup>
AbstractThe latest concepts of the genetics of isolated syndactyly are described in relation to a case in which the malformation could be traced back to four generations. The different principles of classification of syndactyly and the therapeutic possibilities are discussed, calling special attention to early operation in infants.
Journal of Pediatric Orthopaedics · 1991 · 0 citations
LOCAL EPIDERMOPLASTY FOR SYNDACTYLY
AbstractA new method of treating syndactyly is described. The fingers are separated by graduated steps in a special apparatus using skeletal fixation of the phalanges with wires. Skin grafting is then carried out. Scarring and deformity are avoided. The operation can be used for very young children and our patients were aged from 5 months to 30 years. The results of 60 operations are reviewed: 56 were good, 3 satisfactory and 1 unsatisfactory. The advantages of the procedure are discussed.
Indian Journal of Plastic Surgery · 1987 · 0 citations · open access
Congenital Syndactyly: An Analysis of 20 Cases*
AbstractSummary 20 cases of congenital syndactyly seen during the last 3 ½ year at the Command Hospital, Pune have been analysed, elucidating the types of the anomaly confronted, the sex incidence and the associated anomalies / syndromes. The reconstructive procedures performed on these patients are being presented whereby restoration of hand function was achieved in more than 90% of the cases.
German Medical Science (German Research Foundation) · 2020 · 0 citations · open access
Complete complex type-4 syndactyly of all digits with ASD (L>R): A Rare Case Report
AbstractObjectives/Interrogation: Syndactyly is defined as the failure of separation of the digits during early gestation. It is one of the most common congenital anomalies. The incidence of syndactyly is uncertain, but estimates range from 1 in 2,500 live births. During development, the fingers are webbed.[for full text, please go to the a.m. URL]
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
