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The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing problems should have appropriate supports and prompt attention for any inflammation of the ear. [6] [15] A specialist should observe any kidney problems.
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]
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 ...
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]
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, causing torticollis .
Branchio-oto-renal syndrome; Brown–Vialetto–Van Laere syndrome; C. CHARGE syndrome; Chudley–Mccullough syndrome; Cogan syndrome; Crandall syndrome; D.
Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop. Unilateral and bilateral renal agenesis in humans, mice and zebra fish has been linked to mutations in the gene GREB1L. [1] It has also been associated with mutations in the genes RET or UPK3A [2] in humans [3] and mice respectively.
The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome , branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies.