Rare & Orphan Lab · DeCure for X

DeCure for LADD syndrome

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for LADD 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
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Rare & OrphanDOID:0050331$DeCureRare

The disease map

Disease moduleLADD 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 ladd 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.

Molecular view

fibroblast growth factor receptor 3 (FGFR3)FGFR3 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 acpdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 4K33 · 2.3405 Å · ligand PHOSPHOMETHYLPHOSPHONIC ACID ADENYLATE ESTER (ACP). Experimental structure, not a prediction.

What the evidence adds up to

A 1993 report describes a mother with split hand/split foot deformity and her daughter with a condition consistent with LADD syndrome, noting the overlap between LADD and EEC syndrome. The authors state that no distinct feature is constant between these two autosomal dominant disorders, which show great phenotypic variability. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate LADD from EEC syndrome.

A 2011 case report describes LADD syndrome as an autosomal dominant inheritance pattern with marked variability of inheritance, characterised by abnormalities of the lacrimal and/or salivary system, anomalies of ears, teeth and limbs. The report notes that persistent dry mouth and enamel hypoplasia cause serious dental effects, and discusses the accompanying therapeutic challenges.

A 2012 case series reports LADD syndrome patients presenting with diffuse ophthalmoplegia and facial muscle dysfunction. The authors state this may be a distinct subset of LADD syndrome or a new syndrome itself, and believe this to be the first such report. They suggest careful examination of ocular movements in all newly diagnosed LADD syndrome patients. The clinical features listed include lacrimal system hypoplasia, ear anomalies (with or without hearing impairment), salivary system hypoplasia, epiblepharon, dry eyes, corneal limbal stem cells deficiency, hypodontia, microdontia, xerostomia, and clinodactyly.

No drug treatment is mentioned in any of these abstracts. What is missing is any clinical trial data, any tested intervention, any patient stratification beyond phenotypic description, and any funding directed toward a specific therapy for LADD syndrome.

Evidence

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

Journal of Medical Genetics · 1993 · 19 citations · open access

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

AbstractA mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosomal dominant disorders that show great phenotypic variability. This report emphasises the overlap between the LADD and the EEC syndromes.

https://doi.org/10.1136/jmg.30.8.700
Journal of Indian Society of Pedodontics and Preventive Dentistry · 2011 · 10 citations · open access

Lacrimo-auriculo-dento-digital syndrome

AbstractThe Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant inheritance pattern with marked variability of inheritance. It is characterized by abnormalities of lacrimal and/or salivary system, anomalies of ears, teeth and limbs. Persistent dry mouth and enamel hypoplasia cause serious dental effects. Here, a case of LADD syndrome, its clinical spectrum and accompanying therapeutic challenges is discussed.

https://doi.org/10.4103/0970-4388.84693
Seminars in Ophthalmology · 2012 · 3 citations

Lacrimal-auricular-dental-digital (LADD) Syndrome with Diffuse Ophthalmoplegia—A New Finding

AbstractLacrimal-auricular-dental-digital (LADD) syndrome comprises multiple anomalies. It can be inherited as autosomal dominant with variable expressivity or can be sporadic in nature. The clinical features of LADD syndrome include variably, lacrimal system hypoplasia, ear anomalies (with or without hearing impairment), salivary system hypoplasia, epiblepharon, dry eyes, corneal limbal stem cells deficiency, hypodontia, microdontia, xerostomia, and clinodactyly. We would like to report a unique case series of LADD syndrome patients presenting with diffuse ophthalmoplegia and facial muscle dysfunction, which may be a distinct subset of LADD syndrome or a new syndrome itself. We believe this to be the first such report. We suggest careful examination of ocular movements in all newly diagnosed LADD syndrome patients.

https://doi.org/10.3109/08820538.2012.680639

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.