Presentation
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. [rarediseases.org]
Entire Body System
- 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]
Respiratoric
- 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]
Musculoskeletal
- 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]
Neurologic
- 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]
Treatment
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]