Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. [rarediseases.org]

• Anemia

  If anemia occurs, iron supplements may be prescribed. People with KCS2 should be monitored regularly by an eye doctor (ophthalmologist) who is familiar with the eye abnormalities associated with this syndrome. [rarediseases.org]

• Weakness

  Symptoms of hypoparathyroidism include weakness, muscle cramps; excessive nervousness; loss of memory; headaches, and abnormal sensations such as tingling, burning, and numbness of the hands. [rarediseases.org]

• Short Stature

  The primary outcome of KCS2 is short stature. Intelligence is usually normal. [rarediseases.org]

• Swelling

  Affected individuals may have unusually small eyes (microphthalmia), leakage of cerebrospinal fluid into the optic disk of the eye may cause swelling of the disk (papilledema), and/or farsightedness (hyperopia). [rarediseases.org]

• Stridor

  Low levels of calcium in the blood may also cause a condition called tetany, which is characterized by muscle cramps and periods of high-pitched respiration (stridor). [rarediseases.org]

• Macrocephaly

  As a result, affected infants have an abnormally large head circumference (macrocephaly) with a prominent forehead. Several abnormalities of the eyes are also associated with KCS2. [rarediseases.org]

• Muscle Cramp

  Low levels of calcium in the blood may also cause a condition called tetany, which is characterized by muscle cramps and periods of high-pitched respiration (stridor). [rarediseases.org]

• Headache

  Symptoms of hypoparathyroidism include weakness, muscle cramps; excessive nervousness; loss of memory; headaches, and abnormal sensations such as tingling, burning, and numbness of the hands. [rarediseases.org]

• Seizure

  Individuals with KCS2 may also exhibit abnormally low levels of phosphates in the blood (hypophosphatemia), low levels of a hormone that acts to reduce the blood level of calcium (calcitonin), low levels of circulating red blood cells (anemia), and seizures [rarediseases.org]

• Papilledema

  Affected individuals may have unusually small eyes (microphthalmia), leakage of cerebrospinal fluid into the optic disk of the eye may cause swelling of the disk (papilledema), and/or farsightedness (hyperopia). [rarediseases.org]

• Numbness of the Hand

  Symptoms of hypoparathyroidism include weakness, muscle cramps; excessive nervousness; loss of memory; headaches, and abnormal sensations such as tingling, burning, and numbness of the hands. [rarediseases.org]

Standard Therapies Treatment The treatment of KCS2 is directed toward the specific symptoms that are apparent in each individual. Vitamin D and calcium have been prescribed for and proven effective in treating hypocalcemia. [rarediseases.org]