Lachiewicz Sibley syndrome
Encyclopedia
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. Many of the members of this family still live in Nebraska, although the relatives are now scattered throughout the country.
Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz-Sibley syndrome is characterized by only preauricular pitting and renal disease. Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis.
It was characterized in 1985.
Preauricular sinus and cyst
A preauricular sinus or cyst A preauricular sinus or cyst A preauricular sinus or cyst (also known as a "Congenital auricular fistula," "Congenital preauricular fistula," "Ear pit", and "Preauricular cyst"...
and renal disease. Persons with this disease may have hypoplasic kidneys or proteinuria
Proteinuria
Proteinuria means the presence of anexcess of serum proteins in the urine. The protein in the urine often causes the urine to become foamy, although foamy urine may also be caused by bilirubin in the urine , retrograde ejaculation, pneumaturia due to a fistula, or drugs such as pyridium.- Causes...
. This disease was first described in a Caucasian
White people
White people is a term which usually refers to human beings characterized, at least in part, by the light pigmentation of their skin...
family of British and Irish descent that emigrated to Ohio in the 19th century before settling in Nebraska. Many of the members of this family still live in Nebraska, although the relatives are now scattered throughout the country.
Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz-Sibley syndrome is characterized by only preauricular pitting and renal disease. Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis.
It was characterized in 1985.