Glossary for Aase Smith syndrome

• Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
• Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
• Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
• Hydrocephaly: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia.
• Pure red cell aplasia: A rare blood cell disorder where there is a sudden decrease in the number of red blood cells (erythrocytes) produced by the bone marrow.
• Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.

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• External links relating to Aase Smith syndrome
• Cleft Lip/Palate (In A Page: Pediatric Signs and Symptoms)
• Cleft lip and cleft palate (Professional Guide to Diseases (Eighth Edition))
• Cleft lip and cleft palate (Handbook of Diseases)

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