DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for phocomelia, Schinzel type — 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 modulePhocomelia, Schinzel type 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 phocomelia, schinzel type 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
Wnt family member 7A (WNT7A) — WNT7A 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 pamdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8TZO · 3.1 Å · ligand PALMITOLEIC ACID (PAM). Experimental structure, not a prediction.
What the evidence adds up to
The SC phocomelia syndrome and Schinzel phocomelia are distinct but overlapping conditions defined by severe limb and skeletal defects. In two sibs reported in 1979 with SC phocomelia, chromosome analyses showed heterochromatic puffing and centromere separation involving many chromosomes, a finding also seen in Roberts syndrome. One of those sibs had bilateral humero-ulnar and femoro-tibial synostosis, meaning absence of the elbow and knee joints. A 1991 case with clinical and radiologic features resembling Roberts syndrome lacked the cytogenetic and cell division abnormalities typical of that syndrome, suggesting a possible variant or a new syndrome. A 1994 case with Roberts-like features also had a rudimentary gallbladder and accessory spleen.
Schinzel phocomelia syndrome, described in a 2001 report, is characterised by intercalary limb deficiencies, absent or hypoplastic pelvic bones, and large parietooccipital skull defects without meningocele or encephalocele. A boy born to nonconsanguineous Mexican parents had quadrilateral intercalary limb deficiencies with preaxial toe polydactyly, an absent pelvis, a 7 × 3 cm skull defect, microtia, telecanthus, micropenis with cryptorchidism, renal cysts, colon stenosis, and a cleft alveolar ridge. He died shortly after birth. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed. The 2001 report emphasises that recognising severe pelvic and skull deficiencies is key to distinguishing Schinzel phocomelia from thalidomide embryopathy and Roberts-SC phocomelia.
A 2015 case report describes phocomelia detected incidentally in a young man with no thalidomide history and no substantial abnormalities in family members, making sporadic mutation the probable cause. The report notes that phocomelia is transmitted as an autosomal recessive trait with variable expressivity and is linked to chromosome 8. No drug treatment is mentioned in any of these abstracts, and no intervention altered the course of the condition in any reported case.
What is still missing are any clinical trials, any drug-repurposing studies, and any systematic effort to identify molecular targets or pathways that might be modulated. There is no patient stratification beyond the clinical and cytogenetic categories described, and no funding for therapeutic development is reported.
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 · 1979 · 44 citations
The SC phocomelia syndrome: Report of two cases with cytogenetic abnormality
AbstractWe report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero-ulnar and femoro-tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.
American Journal of Medical Genetics · 2001 · 24 citations
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection
AbstractSchinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia.
American Journal of Medical Genetics · 1991 · 14 citations
Roberts syndrome with normal cell division
AbstractRoberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syndrome.
Roberts‐SC phocomelia syndrome: a case with additional anomalies
AbstractRoberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder with symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation and mental retardation. Patients with RS were reported to have premature separation of heterochromatin of many chromosomes. We report an infant whose clinical, radiologic and chromosomal findings resemble those of RS, with rudimentary gallbladder and accessory spleen. This patient may represent a variant of RS.
Egyptian Journal of Dermatology and Venerology · 2015 · 3 citations
Phocomelia: case report of a rare congenital disorder
AbstractPhocomelia is an extremely rare malformation in which babies are born with limbs that appear similar to the flippers of a seal. Although various factors can cause phocomelia, the prominent roots came from the use of thalidomide and from genetic inheritance. Phocomelia is transmitted as an autosomal recessive trait with variable expressivity, and malformation is linked to chromosome 8. Presented here is the incidental detection of phocomelia in a young man with no history of thalidomide intake and for whom evaluation of other family members/siblings failed to reveal any substantial abnormality, making it a probable case of sporadic mutation-induced phocomelia.
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.
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