Rare & Orphan Lab · DeCure for X

DeCure for Tall stature-scoliosis-macrodactyly of the great toes syndrome

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for tall stature-scoliosis-macrodactyly of the great toes syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0070316$DeCureRare

The disease map

Disease moduleTall stature-scoliosis-macrodactyly of the great toes syndrome maps to a 2-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 tall stature-scoliosis-macrodactyly of the great toes syndrome 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.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Developmental Medicine & Child Neurology · 1995 · 34 citations

PODIATRIC DISORDERS AMONG CHILDREN WITH DOWN SYNDROME AND LEARNING DISABILITY

AbstractSUMMARY This study investigated podiatric pathology in seven‐ to 14‐year‐old children with Down syndrome (DS) and non‐Down syndrome learning‐disabled and non‐learning‐disabled age‐matched controls. Several conditions, including pes planus, fissures, split toenails, increased plantar flexed first ray and a wide hallucal cleft were found to be more common in the DS group. Pes cavus and foot rigidity were more common in the non‐DS learning‐disabled group. In all groups the majority of children wore laced shoes, which were most ill‐fitting among children with a learning disability. Approximately one‐third in each group had abnormal foot‐pressure prints. Greater care and professional awareness of podiatric pathology in children with learning disability is recommended. RÉSUMÉ Troubles du pied chez les enfanls trisomiques 21 ou présentant des difficultes d'apprentissage Cette étude évalue la pathologic du pied chez des trisomiques 21 (DS) âgés de sept à quartorze ans, des enfants non trisomiques avec difficultés d'apprentissage et des contrôles appariés sans trouble d'apprentissage. Plusieurs conditions incluant le pied plat, des fissures, et des ongles d'orteils coupes en deux, ont été rencontrées plus fréquemment dans le groupe DS. Le pied creux et rigidité du pied étaient plus habituel dans le groupe non trisomique avec difficultés d'apprentissage. Dans tous les groupes, la majorité des enfants présentaient des brides à lacets sur la cambrure de leurs chaussures, ce qui n'est pas une bonne solution pour des enfants avec difficultés d'apprentissage. Approximativement un tiers des enfants de chaque groupe présentaient des empreintes de pied anormales. Les auteurs recommandent plus de soins et une approche de la pathologie du pied plus professionnelle chez les enfants présentant des troubles des apprentissages. ZUSAMMENFASSUNG Fuβerkrankungen bei Kindern mil Down Syndrom und Lernschwäche In dieser Studie wurdcn bci sieben‐ bis 14‐jährigen Kindern mit Down Syndrom (DS), bci non‐Down Syndrom Kindern mit Lernschwäche und bei altersentsprechenden Kontrollen ohne Lernschwäche Fußerkrankungen untersucht. Befunde wie Pes planus, Fissuren und gespaltene Zehennägel warcn in der DS Gruppe häufiger. Bei den non‐Down Syndrom Kindern mit Lernschwäche fand sich häufiger ein Hohlfuß und Fußstarrheit. In alien Gruppen trugen die meisten Kinder Schuhe mit Riemen über dem Fußrücken, die bei den Kindern mit Lernschwäche sehr schlecht paßten. Ungefähr ein Drittel aus jeder Gruppe hatte einen abnormen Fußabdruck. Die Autoren empfehlen, bei Kindern mit Lernschwäche von fachlicher Seite mit grofkrer Sorgfali auf Fußerkrankungen zu achten. RESUMEN Alleraciones de los pies en niños con sindrome de Down y dificultad para aprender Este estudio investingó la patologia de los pies en siete niños de 14 años de edad con sindrome de Down (SD) y en niños sin tal sindrome pero con altcración en el oprendizaje, en comparación con controles normales. Se vio que en el grupo SD eran más frecuentes la alteraciones siguientes: pies planos, fisuras, y uñas de los pies quebradas longiludinalmente. El pie cavo y rigidez del pie eran más frecuente en el grupo sin sindrome de Down pero con alteración en el aprendizaje. En todos los grupo la mayoria de niños llevaban una banda travesera a nivel del empeine, lo cual constituia un impedimento para los niños con altcración en el aprendizaje. Approximadamentc la tcrccra parte de cada grupo presentaban unas huellas plantares anomalas. Se recomienda un mayor cuidado y estar más atentos a la patologia de los pies en niños con dificultad en el aprendizaje.

https://doi.org/10.1111/j.1469-8749.1995.tb11982.x
Archives of Clinical and Experimental Surgery (ACES) · 2013 · 2 citations · open access

Adult Foot Macrodactyly: A Case Report and Review of the Literature

AbstractMacrodactyly of the foot is a rare congenital anomaly characterized by an enlargement of the soft tissue and osseous elements. It is difficult to treat this disorder when both the functional and cosmetic problems are addressed simultaneously. In the presented case, we describe an adult male patient with macrodactyly of the great toe, who underwent surgical correction consisting of amputation with debulking of soft tissues. To our knowledge, only a few cases regarding adults with macrodactyly of the foot have been reported in the literature. We advocate early surgical treatment of macrodactyly of the foot to enhance the quality of social life. [Arch Clin Exp Surg 2014; 3(2.000): 123-128]

https://doi.org/10.5455/aces.20120721124714

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.