Conorenal syndrome
Conorenal syndrome (pronounced: koh-noh-REE-nuhl sin-drohm) is a rare genetic disorder characterized by kidney (renal) abnormalities and distinct facial features.
Etymology
The term "Conorenal" is derived from the Latin words 'cono' meaning 'cone' and 'renal' referring to the kidneys. The syndrome is named after the characteristic cone-shaped epiphyses, or growth plates, found in the bones of individuals with this condition.
Definition
Conorenal syndrome, also known as Carpenter syndrome type 2, is a subtype of acrocephalopolysyndactyly which is a group of disorders characterized by malformations of the skull, face, hands and feet. It is a rare genetic disorder that primarily affects the kidneys and facial features.
Symptoms
The most common symptoms of Conorenal syndrome include renal dysplasia (abnormal kidney development), distinctive facial features such as a prominent forehead, wide-set eyes, and low-set ears. Other symptoms may include hypertelorism (increased distance between the eyes), brachydactyly (short fingers and toes), and syndactyly (webbed fingers or toes).
Causes
Conorenal syndrome is caused by mutations in the FZD2 gene. This gene provides instructions for making a protein that is part of the Wnt signaling pathway, which is involved in the regulation of cell growth and development.
Diagnosis
Diagnosis of Conorenal syndrome is based on clinical examination, genetic testing, and imaging studies such as ultrasound to detect kidney abnormalities.
Treatment
Treatment for Conorenal syndrome is symptomatic and supportive. It may include surgery to correct kidney abnormalities, physical therapy for motor skills development, and special education services for learning disabilities.
See also
External links
- Medical encyclopedia article on Conorenal syndrome
- Wikipedia's article - Conorenal syndrome
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