22q11.2 deletion syndrome
Other Names for this Disease
- Autosomal dominant Opitz G/BBB syndrome
- Cayler cardiofacial syndrome
- Chromosome 22q11.2 deletion syndrome
- Conotruncal anomaly face syndrome
- Heart defects (74% of individuals)
- Palatal abnormalities (69% of individuals)
- Characteristic facial features (e.g., elongated face, almond-shaped eyes, wide nose, and small ears)
- Learning difficulties (70-90% of individuals)
- Immune system problems (75% of individuals)
- Low levels of calcium (50% of individuals)
- Significant feeding problems (30% of individuals)
- Kidney anomalies (37% of individuals)
- Hearing loss
- Laryngotracheoesophageal anomalies
- Growth hormone deficiency
- Autoimmune disorders (e.g., thrombocytopenia, juvenile rheumatoid arthritis, overactive thyroid, vitiligo, neutropenia, and hemolytic anemia)
- Skeletal abnormalities (e.g., extra fingers, toes, or ribs, wedge-shaped spinal bones, craniosynostosis)
- Psychiatric illness
- Eye abnormalities (e.g., ptosis, coloboma, cataract, and strabismus)
- Central nervous system abnormalities
- Gastrointestinal anomalies
- Preauricular tags
- Abnormal growths (e.g., hepatoblastoma, renal cell carcinoma, Wilm's tumor, and neuroblastoma)
The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. GeneReviews. 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_22q11deletion. Accessed 6/25/2008.