<unk>  (also known as<unk><unk> renal syndrome,<unk>  or<unk> , Melnick- Fraser Syndrome) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. 90% of these are due to inheritance and in 10% cases, it is acquired mutation.  It is characterized by the presence of 1) brachial fistulae or cysts;  2) Ear malformations - including outer, middle or inner ear; 3) Renal malformations, which can range from renal hypoplasia to renal agenesis. The most important differential studied is<unk> otic syndrome (BO) which has exactly the same features as<unk>  but the affected individuals do not have the kidneys abnormalities like in<unk> . The two condition similarities some times create a hard time for researchers. Sometimes they even consider them together as<unk> /BO syndrome.<unk> -" means the second<unk> l arch, s structure that is usually present in the embryo that further gives rise to tissues on the front and the side of the neck. The abnormal development of this<unk> l arch leads to leads to the formation of neck masses called<unk> l cleft cysts which is most commonly seen in people with BO/BOR syndrome. Some people might have abnormal appearing pits or holes in the side of the neck called fistulae. They can form a connection with the mouth near the tonsil. Both<unk> l cleft cyst and fistulae can create problems later in life so they are usually removed during the early stages of childhood. "Oto-" refer to the ear. It has been studied that most patients with BO/BOR syndrome usually have hearing abnormalities. It can be sensorineural, conductive, or mixed. Sensorineural hearing loss is usually seen in the patients with abnormalities in the inner ear: conductive hearing loss is due to the defects of bones in the middle ear; Mixed hearing loss is caused by both inner ear + middle ear abnormalities. Preauricular pits ( tiny holes) and tags (an extra bit of tissue) are the other anomalies associated with the ear anomalies. "Renal" word means kidneys here; The major point to be noted here is that<unk> s do not have real components. So<unk>  causes an alteration in kidney structure and function. The renal abnormalities range from mild to severe and may include one or both the kidneys. The renal abnormalities include the complete absence of kidneys in some cases while in others only mild hypoplasia is present. The most serious condition associated with kidneys is their inability to clear fluids and waste from the body which is usually given a name End-stage renal disease(ESRD).
Branchio-oto-renal syndrome
Oculocerebrorenal syndrome
Evans syndrome
Amelo-cerebro-hypohidrotic syndrome
Parinaud's syndrome
Pseudo-Bartter syndrome
Oculo skeletal renal syndrome
Weaver syndrome