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Melnick-Fraser syndrome(BOR1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: BOR1; Branchio-oto-renal syndrome; Branchiootorenal syndrome
SNOMED CT: Melnick-Fraser syndrome (290006); Branchio-oto-renal syndrome (290006); BOR syndrome (290006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0007029
OMIM®: 113650
Orphanet: ORPHA107


A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMelnick-Fraser syndrome
Follow this link to review classifications for Melnick-Fraser syndrome in Orphanet.

Professional guidelines


Pao J, D'Arco F, Clement E, Picariello S, Moonis G, Robson CD, Juliano AF
AJNR Am J Neuroradiol 2022 Feb;43(2):309-314. Epub 2022 Jan 20 doi: 10.3174/ajnr.A7396. PMID: 35058298Free PMC Article
Masuda M, Kanno A, Nara K, Mutai H, Morisada N, Iijima K, Morimoto N, Nakano A, Sugiuchi T, Okamoto Y, Masuda S, Katsunuma S, Ogawa K, Matsunaga T
Sci Rep 2022 Jan 19;12(1):969. doi: 10.1038/s41598-022-04885-w. PMID: 35046468Free PMC Article
Bertucci E, Mazza V, Lugli L, Ferrari F, Stanghellini I, Percesepe A
J Obstet Gynaecol Res 2015 Nov;41(11):1831-4. Epub 2015 Jul 30 doi: 10.1111/jog.12791. PMID: 26227013

Recent clinical studies


Jalil J, Basheer F, Shafique M
J Coll Physicians Surg Pak 2014 May;24(5):367-8. PMID: 24848399
Garg A, Wadhera R, Gulati SP, Kumar A
J Assoc Physicians India 2008 Nov;56:904-5. PMID: 19263692
Zar T, Aglieco F, Ranga KV
Am J Kidney Dis 2008 Apr;51(4):A44-6. doi: 10.1053/j.ajkd.2007.10.045. PMID: 18371523
Taylor MH, Wilton NC
Paediatr Anaesth 2007 Jan;17(1):80-3. doi: 10.1111/j.1460-9592.2006.02024.x. PMID: 17184439
Jayshree A, Matthai J
Indian Pediatr 2002 Nov;39(11):1058. PMID: 12466581


Taylor MH, Wilton NC
Paediatr Anaesth 2007 Jan;17(1):80-3. doi: 10.1111/j.1460-9592.2006.02024.x. PMID: 17184439

Clinical prediction guides

Stratakis CA, Lin JP, Rennert OM
Am J Med Genet 1998 Sep 23;79(3):209-14. PMID: 9788564

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