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Glossary for Noble-Bass-Sherman syndrome

  • Cataract: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
  • Congenital glaucoma: Primary congenital glaucoma is present at birth; however, its manifestations may not be recognized until infancy or early childhood. It is characterized by improper development of the eye's aqueous outflow system, leading to increased intraocular pressure (IOP), with consequent damage to ocular structures, resulting in loss of vision.
  • Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • 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.
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
  • Impaired vision: Reduced or degraded vision.
  • Myopia: Short-sightedness often requiring glasses
  • Retinal detachment: Partial or total detachment of retina from the back of the eye.
  • Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
  • Weill-Marchesani Syndrome: A rare genetic disorder characterized by short stature and craniofacial, eye, tooth and limb abnormalities.

 

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