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Melnick-Fraser syndrome(BOR1)

MedGen UID:
82693
Concept ID:
C0265234
Disease or Syndrome
Synonyms: BOR syndrome; BOR1; Branchio-Oto-Renal syndrome; Branchiootorenal dysplasia; Branchiootorenal Spectrum Disorders; Branchiootorenal syndrome; Branchiootorenal syndrome 1; EYA1-Related Branchiootorenal Spectrum Disorders
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
autosomal dominant
MedGen UID:
832180
Concept ID:
CN227381
Intellectual Product
Source: Orphanet
Describes a disorder in which only one mutated allele located on one of the 22 autosomes (non-sex chromosomes) is sufficient to express the phenotype and which carries a 50% risk of being passed on to offspring.
SNOMED CT: Melnick-Fraser syndrome (290006); Branchio-oto-renal syndrome (290006); BOR syndrome (290006)
 
Genes (locations): EYA1 (8q13.3); SIX1 (14q23.1)
OMIM®: 113650
Orphanet: ORPHA107

Disease characteristics

Excerpted from the GeneReview: Branchiootorenal Spectrum Disorders
Branchiootorenal spectrum disorders comprise branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS). BOR is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. BOS has the same features as BOR syndrome but without renal involvement. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. BOR syndrome and BOS can be seen in the same family. [from GeneReviews]
Authors:
Richard JH Smith   view full author information

Additional descriptions

From OMIM
Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). Genetic Heterogeneity of Branchiootorenal Syndrome See also BOR2 (610896), caused by mutation in the SIX5 gene (600963) on chromosome 19q13. Sanchez-Valle et al. (2010) stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene. See also branchiootic (BO) syndrome-1 (BOS1; 602588) and the otofaciocervical syndrome (OFC; 166780), allelic disorders showing overlapping phenotypes but without renal anomalies. See also 600257 for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by Vincent et al. (1994). Although Melnick et al. (1978) maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, Cremers and Fikkers-van Noord (1980) concluded that the 2 syndromes are in fact a single entity.  http://www.omim.org/entry/113650
From GHR
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders)."Branchio-" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. Some affected people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone. Fistulae can form tunnels into the neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae can cause health problems if they become infected, so they are often removed surgically."Oto-" and "-otic" refer to the ear; most people with BOR/BO syndrome have hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it is caused by abnormalities in the inner ear; conductive, meaning it results from changes in the small bones in the middle ear; or mixed, meaning it is caused by a combination of inner ear and middle ear abnormalities. Some affected people have tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags, respectively."Renal" refers to the kidneys; BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.  https://ghr.nlm.nih.gov/condition/branchiootorenal-branchiootic-syndrome

Clinical features

Cholesteatoma
MedGen UID:
3043
Concept ID:
C0008373
Disease or Syndrome
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Euthyroid goiter
MedGen UID:
86230
Concept ID:
C0302859
Disease or Syndrome
A goiter that is not associated with functional thyroid abnormalities.
Gustatory lacrimation
MedGen UID:
396279
Concept ID:
C1862052
Finding
Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Vesicoureteral reflux 1
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12.3; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11.23; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Malrotation of kidney
MedGen UID:
68662
Concept ID:
C0238210
Congenital Abnormality
An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.
Renal agenesis
MedGen UID:
154237
Concept ID:
C0542519
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Renal adysplasia
MedGen UID:
301437
Concept ID:
C1619700
Disease or Syndrome
Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). Genetic Heterogeneity of Renal Hypodysplasia/Aplasia RHDA2 (615721) is caused by mutation in the FGF20 gene (605558) on chromosome 8p22.
Abnormal collecting system
MedGen UID:
342720
Concept ID:
C1851303
Finding
An abnormality of the renal collecting system.
Renal steatosis
MedGen UID:
867423
Concept ID:
C4021796
Disease or Syndrome
Abnormal fat accumulation in the kidneys.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21.
Cholesteatoma
MedGen UID:
3043
Concept ID:
C0008373
Disease or Syndrome
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Mixed hearing impairment
MedGen UID:
102336
Concept ID:
C0155552
Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Stenosis of the external auditory canal
MedGen UID:
140758
Concept ID:
C0395837
Finding
An abnormal narrowing of the external auditory canal.
Incomplete partition of the cochlea type II
MedGen UID:
387734
Concept ID:
C1857078
Finding
The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule.
Dilatated internal auditory canal
MedGen UID:
382996
Concept ID:
C2676973
Finding
The presence of a dilated inner part of external acoustic meatus.
Hypoplasia of the cochlea
MedGen UID:
436824
Concept ID:
C2676974
Finding
Developmental hypoplasia of the cochlea.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Gustatory lacrimation
MedGen UID:
396279
Concept ID:
C1862052
Finding
Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.
Abnormality of the cerebrum
MedGen UID:
867394
Concept ID:
C4021762
Anatomical Abnormality
An abnormality of the telencephalon, which is also known as the cerebrum.
Volvulus of midgut
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21.
Branchial cleft cyst
MedGen UID:
2342
Concept ID:
C0006131
Congenital Abnormality
A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Stenosis of nasolacrimal duct
MedGen UID:
116054
Concept ID:
C0238300
Finding
Narrowing of a tear duct (lacrimal duct).
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Byzanthine arch palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Cleft uvula
MedGen UID:
75600
Concept ID:
C0266122
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Preauricular dimple
MedGen UID:
120587
Concept ID:
C0266610
Congenital Abnormality
Small indentation anterior to the insertion of the ear.
Bell palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include. -Twitching. -Weakness. -Paralysis. -Drooping eyelid or corner of mouth. -Drooling. -Dry eye or mouth. -Excessive tearing in the eye. -Impaired ability to taste. Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. . NIH: National Institute of Neurological Disorders and Stroke.
Branchial fistula
MedGen UID:
107802
Concept ID:
C0546968
Congenital Abnormality
A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.
Overbite
MedGen UID:
224926
Concept ID:
C1305740
Finding
Maxillary teeth cover the mandibular teeth when biting to an increased degree.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Anatomical Abnormality
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Lacrimal duct aplasia
MedGen UID:
870330
Concept ID:
C4024773
Congenital Abnormality
A congenital defect resulting in absence of the lacrimal duct.
Preauricular dimple
MedGen UID:
120587
Concept ID:
C0266610
Congenital Abnormality
Small indentation anterior to the insertion of the ear.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).

Term Hierarchy

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

Recent clinical studies

Diagnosis

Jalil J, Basheer F, Shafique M
J Coll Physicians Surg Pak 2014 May;24(5):367-8. doi: 04.2014/JCPSP.367368. 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

Therapy

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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