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Wieacker-Wolff Syndrome

Wieacker-Wolff Syndrome Deep Research Fallback

⚠️ Fallback MONDO:0010758

Wieacker-Wolff Syndrome Deep Research Fallback

Scope

This fallback artifact supports curation of Wieacker-Wolff syndrome, represented by MONDO:0010758 and structured Orphanet records ORPHA:3454 and ORPHA:85283.

Structured Sources

  • ORPHA:3454 provides the primary Wieacker-Wolff syndrome definition, synonym, X-linked recessive inheritance, neonatal onset, ultra-rare worldwide prevalence, ZC4H2 gene association, HPO phenotype frequencies, and MONDO/OMIM cross-references.
  • ORPHA:85283 provides a sparse legacy record for X-linked intellectual disability, Miles-Carpenter type. It is used only as a synonym/cross-reference source because the cache has no separate definition, phenotype table, inheritance, or gene assertion.

PubMed Sources Used

  • PMID:23623388: ZC4H2 discovery report linking X-linked arthrogryposis multiplex congenita plus intellectual disability to ZC4H2 mutations, with mouse neuronal evidence for altered dendritic spine density and zebrafish evidence for impaired alpha-motoneuron development.
  • PMID:35121145: ophthalmic case report/review supporting ptosis, strabismus, oculomotor apraxia, arthrogryposis, and facial/bulbar weakness.
  • PMID:34484757: prenatal case report supporting ultrasound recognition of fetal arthrogryposis, lower-limb anomalies, ZC4H2 deletion/sequencing, and genetic counseling.
  • PMID:31885220: de novo female nonsense-variant case supporting whole-exome diagnosis, truncal hypotonia, scoliosis, rehabilitation training, and altered mutant ZC4H2 protein trafficking.
  • PMID:29150902: female case report supporting the traditional X-linked recessive description and cleft palate as a reported manifestation.

Curation Boundaries

  • ORPHA:3454 phenotype frequencies are used only where directly supported by exact Orphanet phenotype rows. Additional PubMed-only phenotypes are included without frequency unless the cited source provides a quantitative frequency.
  • ORPHA:85283 is not modeled as a distinct subtype because the local structured cache is a title/cross-reference-only legacy record.
  • Treatment curation is limited to rehabilitation/physical therapy and genetic counseling because the cached sources do not provide disease-modifying or drug-specific therapy evidence.

Provider Attempts

  • timeout 75s just research-disorder openai Wieacker_Wolff_Syndrome remained silent after the startup line and was terminated by the timeout with exit 124 before producing an OpenAI provider artifact.
  • timeout 75s just research-disorder falcon Wieacker_Wolff_Syndrome was terminated by the timeout with exit 124 before producing a Falcon provider artifact.

The curation was completed from structured Orphanet rows and cached PubMed evidence to avoid blocking on provider availability.