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Caudal regression-sirenomelia spectrum

MedGen UID:
944285
Concept ID:
CN261251
Finding
Synonym: caudal regression-sirenomelia spectrum
 
Monarch Initiative: MONDO:0018639
Orphanet: ORPHA444941

Definition

A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCaudal regression-sirenomelia spectrum

Recent clinical studies

Diagnosis

Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP
Am J Med Genet A 2007 Dec 15;143A(24):3175-84. doi: 10.1002/ajmg.a.32028. PMID: 17963219

Prognosis

Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP
Am J Med Genet A 2007 Dec 15;143A(24):3175-84. doi: 10.1002/ajmg.a.32028. PMID: 17963219

Clinical prediction guides

Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP
Am J Med Genet A 2007 Dec 15;143A(24):3175-84. doi: 10.1002/ajmg.a.32028. PMID: 17963219

Supplemental Content

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