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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]
Lachiewicz–Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons with this disease may have hypoplasic kidneys or proteinuria . This disease was first described in a Caucasian family of British and Irish descent that emigrated to Ohio in the 19th century before settling in Nebraska.
It is called preauricular sinus which, according to the U.S. National Institutes of Health, or NIH, "generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where ...
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)
Saito–Kuba–Tsuruta syndrome, also known as Fibulo-ulnar hypoplasia-renal anomalies syndrome, is a very rare genetic disorder which is characterized by fibulo-ulnar dysplasia associated with renal abnormalities. It is associated with neo-natal respiratory failure soon after birth.
Radio-renal syndrome is a rare, presumably autosomal dominant genetic disorder characterized by underdevelopment of the digits as a result of the maldevelopment of either the radius, ulnae, or both, alongside renal ectopia, renal agenesis, mild malformations of the external ear, short stature.
The several components or degrees of development range from an ear tag, preauricular appendage, preauricular tag, or accessory tragus, to supernumerary ears or polyotia. [7] It is a relatively common congenital anomaly of the first branchial arch or second branchial arches.