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Diseases » Microphthalmia » Glossary

Glossary for Microphthalmia

  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Cytomegalovirus: A easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Fetal alcohol syndrome: A pattern of mental and physical birth defects caused by excessive alcohol use during pregnancy. The range and severity of the symptoms may vary greatly.
  • Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities.
  • Head Conditions: Conditions that affect the head
  • Lenz Microphthalmia Syndrome: A condition which is characterized by an abnormally small eye
  • Oculodentodigital syndrome: A rare genetic disorder characterized by small eyes, underdeveloped tooth enamel and permanent flexion of one or more finger joints.
  • Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
  • Rubella: A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.
  • Seemanova-Lesny syndrome: A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
  • Small eye: Small eye is a condition in which an eye is unusually small.
  • Wilkie Taylor Scambler syndrome: A syndrome characterised by cataracts with microphthalmia and septal defect


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