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The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the ...
This and other ear malformations are sometimes associated with renal anomalies. [11] In rare circumstances these pits may be seen in genetic conditions such as branchio-oto-renal syndrome; however these conditions are always concurrent with other health concerns. [12]
Enlarged vestibular aqueducts can also occur in branchio-oto-renal syndrome, CHARGE syndrome and renal tubular acidosis. Enlarged vestibular aqueducts can be bilateral or unilateral. Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss ...
Renal abnormalities including structural abnormalities, nephromegaly, nephrocalcinosis, and/or later development of medullary sponge kidney; Anterior linear ear lobe creases and/or posterior helical ear pits; Placental mesenchymal dysplasia; Cleft palate (rare in BWS) Cardiomyopathy (rare in BWS)
Inner ear malformations, however, are not typically seen in this population. Middle ear disease is common among individuals with Nager syndrome. Chronic otitis media and Eustachian tube deformity can result in conductive hearing loss. For this reason, early detection and treatment for middle ear disease is crucial in this population.
Skin pit can be found in this location. However, if skin pits are found on both sides of the neck, then, branchio-oto-renal syndrome should be ruled out. Infection of the cysts in this region can compress trachea , causing respiratory problems, or it can compress the oesophagus , causing dysphagia , and irritating the sternocleidomastoid muscle ...
The recommended treatment is that the skin is peeled off the extra-auricular tissue and protruding cartilage remnants are trimmed. [13] Normal appearance is achieved in majority of cases. The reconstruction successful in true cases of accessory auricle, as it also is in individuals with auricular appendages. [14] [15]
The clinical features of TBS overlap with VATER and VACTERL associations, oculo-auriculo-vertebral (OAV) spectrum, branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other 'anus-hand-ear' syndromes. [4] Although some symptoms can be life-threatening, many people diagnosed with Townes-Brocks Syndrome live a normal lifespan. [2]