F: N.FIBROMATOSIS- R. HAMAMY- CLEFT L.P - SICKLE C.- HEMOC.

• Neurofibromatosis (NF) is a genetic disorder that causes multiple tumors on nerve tissues, including brain, spinal cord, and peripheral nerves
• There are three types of NF: NF1, NF2, and schwannomatosis (SWN)
• NF1 is the most prevalent type, accounting for 96% of all cases, characterized by neurofibromas that induce skin changes and bone deformation
• NF2 typically causes hearing loss and vestibular dysfunction
• SWN causes intense pain
• Dermatology findings in NF include numerous soft cutaneous nodules of variable sizes, most numerous on the trunk and limbs
• Ophthalmological status in NF includes multiple cutaneous nodules that affect the edge of the eyelid
• Rare Hamamy Syndrome is caused by a mutation in the IRX5 gene
• Age of onset for Rare Hamamy Syndrome is infancy or neonatal
• Symptoms of Rare Hamamy Syndrome include facial dysmorphism, ocular anomalies, osteopenia, intellectual disability, dental anomalies
• Intellectual disability, myopia, sensorineural deafness, cryptorchidism, osteopenia, and recurrent fractures are also noted in Rare Hamamy Syndrome
• Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly during pregnancy
• Cleft lip and cleft palate are openings or splits in the upper lip, the roof of the mouth (palate) or both
• Cleft lip and cleft palate are among the most common birth defects
• Cleft lip and cleft palate can be isolated birth defects or associated with inherited genetic conditions or syndromes
• Folic acid supplements early in pregnancy can reduce the chances of a baby being born with a facial cleft
• Sickle cell disease is an inherited blood disorder marked by defective hemoglobin
• Sickle cells tend to stick together, blocking small blood vessels and causing painful complications
• A person with sickle cell disease inherits two genes, one from each parent
• Main complications of sickle cell disease include progressive loss of elasticity of red blood cells, anemia, swollen feet and hands, bacterial infections, and in extreme cases, stroke
• Hemochromatosis is a disorder where the body accumulates too much iron in various organs
• Too much iron can lead to toxic effects and damage tissues and organs, causing diseases like cirrhosis, liver cancer, and heart problems
• Primary hemochromatosis is caused by inherited mutations in genes that control iron absorption
• Early detection of hemochromatosis is essential as the impacts are preventable if detected early
• Different types of hemochromatosis include primary (hereditary), secondary (from diet or blood transfusions), and neonatal hemochromatosis (rare condition caused by fetal liver injury)