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Bosma Arhinia Microphthalmia Syndrome

Bosma Arhinia Microphthalmia Syndrome Deep Research Fallback

⚠️ Fallback MONDO:0011323

Bosma Arhinia Microphthalmia Syndrome Deep Research Fallback

Scope

This fallback artifact supports curation of Bosma arhinia microphthalmia syndrome (BAMS), represented by MONDO:0011323 and the structured Orphanet record ORPHA:2250.

Structured Sources

  • ORPHA:2250 provides the usable disease definition, synonyms, autosomal dominant/unknown inheritance rows, antenatal/neonatal onset, ultra-rare worldwide prevalence, SMCHD1 gene association, OMIM xref, and 32 HPO phenotype-frequency rows.
  • ORPHA:1135 is a sparse legacy cross-reference record for arrhinia-choanal atresia-microphthalmia syndrome. It does not include definition, phenotype, gene, inheritance, or epidemiology rows.

PubMed Sources Used

  • PMID:6802865: original Bosma report describing severe nasal/ocular hypoplasia, smell/taste impairment, hypogonadism, hernias, cryptorchidism, and normal intelligence.
  • PMID:16353241: clinical review/case report summarizing the syndrome and developmental candidate pathways.
  • PMID:28067911: SMCHD1 discovery series with de novo ATPase-domain missense variants and Xenopus functional evidence.
  • PMID:28067909: independent arhinia/BAMS sequencing cohort and zebrafish model evidence.
  • PMID:31243061: SMCHD1 mutation-spectrum study distinguishing BAMS-associated ATPase-domain variants from FSHD2.
  • PMID:34209568: patient-derived neural crest cell study supporting AKT, extracellular-matrix, adhesion, and migration defects.
  • PMID:36968924: recent case report with diagnostic criteria and anatomic findings.
  • PMID:36944600: congenital arhinia pedigree with targeted SMCHD1 sequencing and staged nasal construction.

Curation Boundaries

  • All ORPHA:2250 HPO phenotype rows are represented with Orphanet frequency evidence.
  • Treatment curation is limited to staged nasal/midface reconstruction and genetic counseling because these have direct cached evidence. Endocrine treatment was not added because the cached abstracts used here do not provide a quotable treatment-support snippet.
  • The entry treats ORPHA:1135 as a legacy alias/cross-reference record rather than as a separate subtype because the local record is sparse and lacks subtype-defining clinical content.

Provider Attempts

  • timeout 75s just research-disorder falcon Bosma_Arhinia_Microphthalmia_Syndrome was terminated by the timeout (signal 15 / exit 124) before producing a provider artifact.
  • timeout 75s just research-disorder openai Bosma_Arhinia_Microphthalmia_Syndrome was terminated by the timeout (signal 15 / exit 124) before producing a provider artifact.

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