Glossary for Chromosome 22q deletion syndrome

• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• Face symptoms: Symptoms affecting the face
• Frontal bossing: Frontal bossing is an abnormally large forehead.
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• Hypoparathyroidism: A condition where the parathyroid glands don't produce enough parathyroid hormone for normal body functioning. The primary function of these hormones is to regulate body calcium levels.
• Hypothyroidism: Too little thyroid hormone production.
• Jaw symptoms: Symptoms affecting the jaw
• Learning disabilities: Various developmental problems impairing learning or schooling.
• Long head: Long head refers to an unusually elongated head.
• Recurrent infections: Recurrent infections that occur throughout the year.
• Schizophrenia: A psychiatric disorder characterized by hallucinations and delusional beliefs where a person is unable to distinguish between reality and imagination. The condition tends to have a chronic nature and can be severely debilitating if treatment isn't sought.
• Small head: The occurrence of a head which is smaller than normal
• Thrombocytopenia: Decreased platelets in the blood

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