Melnick-Fraser syndrome(BOR1)

MedGen UID:: 82693
•Concept ID:: C0265234
•: 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: 141047 •Concept ID: C0443147 • 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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007029
OMIM®:	113650
Orphanet:	ORPHA107

Definition

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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMelnick-Fraser syndrome

Branchial arch or oral-acral syndrome
- Melnick-Fraser syndrome

Follow this link to review classifications for Melnick-Fraser syndrome in Orphanet.

Professional guidelines

PubMed

Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.

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: 35058298 Free PMC Article

Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.

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: 35046468 Free PMC Article

Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

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

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