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Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

MedGen UID:
374010
•Concept ID:
C1838606
•
Disease or Syndrome
Synonym: Atrioventricular septal defect with blepharophimosis and anal and radial defects
 
Monarch Initiative: MONDO:0010825
OMIM®: 600123
Orphanet: ORPHA1352

Definition

A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtrioventricular defect-blepharophimosis-radial and anal defect syndrome
Follow this link to review classifications for Atrioventricular defect-blepharophimosis-radial and anal defect syndrome in Orphanet.

Recent clinical studies

Etiology

Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities.
Babaoğlu K, Altun G, Binnetoğlu K, Dönmez M, Kayabey Ö, Anık Y
Pediatr Cardiol 2013;34(8):1785-90. Epub 2013 May 10 doi: 10.1007/s00246-013-0714-4. PMID: 23660850

Diagnosis

Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities.
Babaoğlu K, Altun G, Binnetoğlu K, Dönmez M, Kayabey Ö, Anık Y
Pediatr Cardiol 2013;34(8):1785-90. Epub 2013 May 10 doi: 10.1007/s00246-013-0714-4. PMID: 23660850
Down syndrome: imaging of multiorgan involvement.
Kriss VM
Clin Pediatr (Phila) 1999 Aug;38(8):441-9. doi: 10.1177/000992289903800801. PMID: 10456238

Prognosis

Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities.
Babaoğlu K, Altun G, Binnetoğlu K, Dönmez M, Kayabey Ö, Anık Y
Pediatr Cardiol 2013;34(8):1785-90. Epub 2013 May 10 doi: 10.1007/s00246-013-0714-4. PMID: 23660850

Clinical prediction guides

Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.
Friedland-Little JM, Hoffmann AD, Ocbina PJ, Peterson MA, Bosman JD, Chen Y, Cheng SY, Anderson KV, Moskowitz IP
Hum Mol Genet 2011 Oct 1;20(19):3725-37. Epub 2011 Jun 8 doi: 10.1093/hmg/ddr241. PMID: 21653639Free PMC Article

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