DeCure for Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for ankyloblepharon-ectodermal defects-cleft lip/palate syndrome — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome maps to a 1-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 ankyloblepharon-ectodermal defects-cleft lip/palate 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
tumor protein p63 (TP63) — TP63 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7Z7E · 1.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also called Hay-Wells syndrome, is a rare autosomal dominant form of congenital ectodermal dysplasia. It is characterised by coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and cleft lip and palate. As of 1987, 12 patients had been reported, with the diagnosis questioned in three of them; two additional patients were then reported, one of whom had nasal speech but not cleft palate, in contrast to all other reported patients. The syndrome is caused by mutations in p63, and the main isoform expressed in postnatal skin is ΔNp63α, which functions as a key regulator of epidermal integrity. Mutations identified in AEC syndrome localise in sterile α motif and transactivation inhibitory domains.
A 2022 case report describes a rare presentation of ankyloblepharon filiforme adnatum with cleft palate without any other feature of ectodermal dysplasia, and discusses the need to surgically address the ankyloblepharon to avoid complications. A 2025 clinical report illustrates the use of a patient-specific subperiosteal implant for dental rehabilitation in a patient with AEC who developed severe maxillary atrophy. No drug treatment is described in any of these abstracts.
The related TP63-associated syndromes include ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. ADULT syndrome, due to an R243W mutation in TP63, lacks clefting and ankyloblepharon, and is characterised by ectrodactyly, syndactyly, excessive freckling, hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. The same R243W mutation has been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome. Management of EEC syndrome is described as challenging, with few reports in the medical literature.
What is still missing is any clinical trial or systematic evidence for drug therapy in AEC syndrome. The literature consists entirely of case reports and genetic descriptions. No randomised trial, no controlled study, and no drug repurposing data exist for this condition. The fundamental gaps are a lack of patient stratification by specific p63 mutation, no standardised outcome measures for ectodermal features, and no funding for therapeutic development beyond surgical case reports.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1987 · 40 citations
Variable expression in ankyloblepharon–ectodermal defects–cleft lip and palate syndrome
AbstractThe ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells) syndrome is a rare autosomal dominant form of congenital ectodermal dysplasia. It is characterized by coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and cleft lip and palate. To date, 12 patients have been reported; however, the diagnosis has been questioned in 3 of these patients. We report 2 additional patients, one of whom has nasal speech but not cleft palate, in contrast to all other reported patients. This entity must be distinguished from numerous other forms of ectodermal dysplasia, especially those forms that can be associated with oral clefts and/or ankyloblepharon.
AbstractAnkyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is an autosomal genetic disease with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate. The authors report a patient with 17 months old girl with AEC syndrome having ankyloblepharon, cleft and palate, and ectrodactyly with some associated features. Etiology, clinical features, differential diagnosis, and treatment have been elaborated in this clinical report.
International Journal of Dermatology · 2012 · 16 citations
ADULT syndrome due to an R243W mutation in <i>TP63</i>
AbstractAcro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.
Evidence that AEC Syndrome and Bowen–Armstrong Syndrome Are Variable Expressions of the Same Disease
AbstractSeveral clinical disorders combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These conditions have been recognized as a group of diseases with a narrow phenotypic spectrum and multiple points of overlap. We report a patient with a clinical diagnosis of AEC syndrome (ankyloblepharon, ectodermal defects, and CL/P) who additionally has some features observed in a different ED-CL/P disorder, Bowen-Armstrong syndrome. Because of this clinical overlap, we suggest that AEC syndrome and Bowen-Armstrong syndrome may be variable manifestations of the same pathologic entity.
European Journal of Dermatology · 2014 · 3 citations
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules
AbstractAnkyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasias and is caused by mutations in p63 [1, 2]. Six isoforms are generated from the p63 gene and the main isoform expressed in postnatal skin is ΔNp63α, which functions as a key regulator of epidermal integrity. Mutations identified in AEC syndrome localize in sterile α motif and transactivation inhibitory domains [...]
Plastic and Aesthetic Research · 2015 · 2 citations · open access
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a rare entity
AbstractEctrodactyly-ectodermic dysplasia-cleft lip/palate (EEC) syndrome is a rare congenital anomaly of inherited origin and varying clinical features. This syndrome has three main symptoms, which display variable expression and penetrance. The management of this syndrome is challenging, with few reports in the medical literature. We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.
Journal of Craniofacial Surgery · 2025 · 0 citations
Management of Severe Maxillary Atrophy in a Patient With Hay-Wells Syndrome
AbstractAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), also known as Hay-Wells syndrome, is a rare systemic disorder that affects the development of derivatives of ectodermal tissues, which in some cases results in the development of severe maxillary atrophy. This brief clinical report illustrates the use of a patient-specific subperiosteal implant to perform dental rehabilitation in a patient with AEC.
The Cleft Palate-Craniofacial Journal · 2022 · 0 citations
Rare Association of Ankyloblepharon Filiforme Adnatum (AFA) with Cleft Palate – Case Report
AbstractThe aim of this article is to discuss about rare representation of ankyloblepharon (an established chromosomal anomaly with aberration of p53 inherited as an autosomal dominant trait) with cleft of palate without any other feature of ectodermal dysplasia. The need to surgically address ankyloblepharon in order to avoid complications is also discussed.
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.
