Conorenal syndrome

Conorenal syndrome
Synonyms	Schinzel-Giedion syndrome, Schinzel-Giedion midface retraction syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Congenital heart defects, renal dysplasia, craniofacial abnormalities
Complications	Kidney failure, heart failure
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	VACTERL association, CHARGE syndrome
Prevention	N/A
Treatment	Supportive care, surgery for heart defects
Medication	N/A
Prognosis	Variable, often poor
Frequency	Rare
Deaths	N/A

Conorenal syndrome is a rare genetic disorder characterized by renal (kidney) dysplasia and conical teeth. The syndrome is also known as renal dysplasia and retinal aplasia.

Symptoms and Signs

The primary symptoms of Conorenal syndrome include renal dysplasia, which is abnormal development of the kidneys, and conical teeth, which are unusually shaped teeth. Other symptoms may include retinal aplasia, which is the absence of the retina in the eye, leading to blindness.

Causes

Conorenal syndrome is a genetic disorder, meaning it is caused by abnormalities in a person's genes. It is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of Conorenal syndrome is typically made based on the presence of the characteristic signs and symptoms. Genetic testing may be used to confirm the diagnosis.

Treatment

There is currently no cure for Conorenal syndrome. Treatment is symptomatic and supportive, and may include management of kidney problems and dental care for conical teeth.

Prognosis

The prognosis for individuals with Conorenal syndrome varies depending on the severity of the kidney problems and other symptoms. With appropriate management, many individuals with the condition can lead normal lives.

See also

• Genetic disorder
• Renal dysplasia
• Conical teeth
• Retinal aplasia
• Autosomal recessive

NIH genetic and rare disease info

• NIH info on Conorenal syndrome

Conorenal syndrome is a rare disease.