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Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species, as with Cy, the Cyclops kitten.
Intestinal malrotation is a developmental anomaly that occasionally causes an unusual array of symptoms in adults. The delay in diagnosis that is common in patients with malrotation frequently results in a ruptured appendix. Appendicitis should be considered when characteristic signs and symptoms are present, even if the location of abdominal pain is atypical.
-Hypopigmented spots, in combination with a family history of bilateral deafness, strongly suggest neurofibromatosis type 2 (NF-2), an autosomal-dominant disorder. The spots described actually represent cafe-au-lait spots that are usually hypopigmented (unlike the hyperpigmented cafe-au-lait spots found in NF-1 ). Deafness is caused by bilateral acoustic neuromas, a characteristic neurologic manifestation of the syndrome.
Hemolytic-uremic syndrome (or haemolytic-uraemic syndrome), abbreviated HUS, is a disease characterized by hemolytic anemia (anemia caused by destruction of red blood cells), acute kidney failure (uremia), and a low platelet count (thrombocytopenia).
The infection is generally transmitted by direct contact with the mucus or sores of someone else with strep. Common symptoms include sore throat, fever, and swollen lymph nodes in the neck. Rarely, complications can involve the heart or kidneys. Treatment is important to reduce complications. Oral antibiotics like penicillin, amoxicillin, cephalexin, or azithromycin are commonly used. Other medicines such as acetaminophen or ibuprofen can help with pain and fever.