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Stromme Syndrome

Stromme Syndrome Deep Research Fallback

⚠️ Fallback MONDO:0009477

Stromme Syndrome Deep Research Fallback

Scope

This fallback artifact supports curation of Stromme syndrome, represented by MONDO:0009477 and structured Orphanet records ORPHA:506307 and ORPHA:444069.

Structured Sources

  • ORPHA:506307 provides the primary Stromme syndrome definition, synonyms, autosomal recessive inheritance, antenatal onset, ultra-rare worldwide prevalence, CENPF gene association, and MONDO/OMIM cross-references.
  • ORPHA:444069 provides the severe fetal CENPF-associated ciliopathy spectrum with mid-gestation lethality, hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and craniofacial features.

PubMed Sources Used

  • PMID:26820108: CENPF discovery report for classic Stromme syndrome sibling pairs, including autosomal recessive inheritance, whole-exome sequencing, truncating CENPF mutations, and the classic apple-peel intestinal atresia, ocular anomaly, and microcephaly triad.
  • PMID:28407396: independent affected sibling family with homozygous truncating frameshift CENPF mutation and classic clinical features.
  • PMID:18203155: pre-CENPF clinical report supporting the classic phenotype, including apple-peel intestinal atresia, microcephaly, microphthalmia, anterior chamber anomalies, corneal clouding, and visual impairment.
  • PMID:25564561: human fetal, cell, and zebrafish evidence linking CENPF to a severe fetal ciliopathy, IFT88 ciliary targeting, short renal epithelial cilia, ciliary function, and cortical neurogenesis.

Curation Boundaries

  • ORPHA:506307 has no HPO phenotype table in the local structured cache, so phenotype frequencies are intentionally omitted unless supported by an exact quantitative source.
  • ORPHA:444069 is modeled as a severe fetal CENPF-associated subtype/spectrum within MONDO:0009477 rather than as a separate disorder entry.
  • Treatment curation is limited to symptom-directed supportive care and genetic counseling because the cached Stromme-specific sources do not provide direct drug or disease-modifying therapy evidence.

Provider Attempts

  • just research-disorder openai Stromme_Syndrome was started and remained silent after the startup line for about 60 seconds. The process was terminated with signal 15 before producing an OpenAI provider artifact.
  • timeout 60s just research-disorder falcon Stromme_Syndrome was terminated by the timeout (signal 15 / 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.