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Anomalous rib insertion to vertebrae

MedGen UID:
349346
Concept ID:
C1861704
Finding
HPO: HP:0006593

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnomalous rib insertion to vertebrae

Conditions with this feature

Cerebro-costo-mandibular syndrome
MedGen UID:
120537
Concept ID:
C0265342
Disease or Syndrome
Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant disorder characterized by branchial arch-derivative and thoracic malformations. A key craniofacial characteristic is micrognathia, often associated with cleft palate and feeding and airway difficulties. Patients with CCMS have a narrow chest and striking posterior rib gaps which distinguish this condition (summary by Tooley et al., 2016). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.

Recent clinical studies

Diagnosis

Ogut E, Sogut B, Korkut KS, Balci A, Sengiz CN, Lek IK, Bucak AZ
Surg Radiol Anat 2023 Aug;45(8):1031-1036. Epub 2023 Jun 4 doi: 10.1007/s00276-023-03174-z. PMID: 37270753

Clinical prediction guides

Ogut E, Sogut B, Korkut KS, Balci A, Sengiz CN, Lek IK, Bucak AZ
Surg Radiol Anat 2023 Aug;45(8):1031-1036. Epub 2023 Jun 4 doi: 10.1007/s00276-023-03174-z. PMID: 37270753

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