Glossary for Chromosome 9 trisomy syndrome

• Anophthalmos: A rare defect where one or both eyes are absent. The amount of eye socket tissue affected is variable.
• Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• High arched palate: A condition where the roof of the mouth is higher in the mouth than normal.
• Jaw symptoms: Symptoms affecting the jaw
• Microcephaly: Small head circumference
• Overlapping fingers: Overlapping fingers refers to fingers that lie abnormally on top of one another.
• Prominent back of skull: Prominent back of skull is an unusually large or protruding back of the skull.
• Samson-Viljoen syndrome: A very rare syndrome characterized by small ears, abnormal chest wall and facial, lip and palate clefts.
• Small face: Small face is a face that is unusually little.
• Small head: The occurrence of a head which is smaller than normal
• Webbed neck: occurs in congenital malformations

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