Cantú syndrome
osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly
Cantú syndrome is a rare genetic disorder characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly, among other symptoms. Fewer than 50 cases have been described in the literature; they are associated with mutations in the ABCC9 (SUR2) and KCNJ8 (Kir6.1) genes, which encode subunits of ATP-sensitive potassium channels (KATP channels).
Signs and symptoms
The main features of this condition are hypertrichosis, osteochondrodysplasia, and cardiomegaly. There is also a characteristic facies. Other features include patent ductus arteriosus, congenital hypertrophy of the left ventricle, and pericardial effusions.
Neurodevelopmental outcome appears normal, but obsessive traits and anxiety have been reported. It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding, and additional possible associations include lymphoedema and heterochromia iridis.
Most people with Cantú syndrome eventually develop high-output cardiac hypertrophy or cardiomegaly and congestive heart failure due to long-term low systemic vascular resistance and consequent cardiac remodeling.
Cause
Cantú syndrome is caused by gain-of-function mutations in genes encoding subunits of ATP-sensitive potassium channels (KATP channels), including ABCC9 (encoding the sulfonylurea receptor 2 or SUR2) and KCNJ8 (encoding Kir6.1). It is apparently inherited in an autosomal dominant fashion.
Begin with the source’s own compact description: “Cantú syndrome” is osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. The dossier treats that line as a proposition to test through Cantú, syndrome and osteochondrodysplasia, not as a finished interpretation.
Why this record matters
The phrase “osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly” supplies a clear boundary for inquiry. It also exposes the unanswered questions: who defined that boundary, when it became stable and which sources sit outside it.
The citation trail is more important than the brevity of the summary: it shows where individual claims can be examined in context. The source revision retrieved here is dated Aug 10, 2026. The linked authority identifier is Q5034093. None of the 0 selected statements returned an explicit reference.
A concise general-reference account can conceal disagreements about scope, terminology or the weight assigned to individual sources. The source lead contains qualifying language; that uncertainty should survive quotation, summary and reuse. Authority statements aid reconciliation but still require their own references, qualifiers and ranks to be checked.
How to read it
Use the entry as an orientation point, then follow its citations and revision history. Names, dates and institutional relationships should be checked against the original record.
- Subject orientation
- Search vocabulary
- Locating named sources
The closest primary source, responsible institution and strongest cited specialist reference.
Three-step research path
- Establish the record: confirm the title “Cantú syndrome”, its source revision and the description used here.
- Expand the search: follow Cantú syndrome primary sources, Cantú syndrome archive and Cantú research across catalogues and specialist indexes.
- Test the account: compare the strongest cited source with the responsible institution’s current record and note any disagreement.
Questions for further research
- Which source most directly establishes the central claim about “Cantú syndrome”?
- Which cited source is closest to the event, object or claim?
- What terminology or title could unlock a more precise catalogue search?
Search terms from this dossier
This entry incorporates text from “Cantú syndrome” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.