The symptoms of 22Q-velocardiofacial syndrome vary a lot from person to person, and some of them are very subtle. This can make it difficult to recognize and diagnose the syndrome. However, there are some clear reasons to consider testing, particularly when more than one symptom is present, and the symptoms are associated with developmental delay or learning difficulty.
- Typical facial features: Long narrow face with flat cheek bones, small chin, hooded eyelids, shorter openings between the upper and lower eyelids, small mouth, and small ears with an unusual folding of the top half of the ear, and a nose that can be long with a wide nasal bridge, and a squared or sometimes bulbous tip. Note: Unusual facial features are not always present, and are generally more noticeable in Caucasians than in other ethnic groups.
- Heart defects (conotruncal): Tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (perimembranous), persistent truncus arteriosus
- Oral motor feeding problems in infancy; feeding difficulties that are related to the muscles of the mouth and/or mouth movements
- Speech issues: Apraxia, velopharyngeal insufficiency (VPI), significant speech and language delays, laryngeal web
- T-cell immunodeficiency
A diagnosis of 22Q-velocardiofacial syndrome can be confirmed by ordering a blood test, usually fluorescent in situ hybridization probe for microdeletion 22q11.2 (FISH 22q11.2).
Children and adults can also be referred to the Division of Human Genetics for more comprehensive diagnostic services.