NeurometPlus

Incidence

It is a 22q11.2 deletion syndrome, also known as DiGeorge anomaly, DiGeorge Syndrome, Velo-Cardio-Facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Congenital Thymic Aplasia, Strong Syndrome, Thymic hypoplasia, and DiGeorge anomaly is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2 i.e., on the long arm of one of the pair of chromosomes 22. It has a prevalence estimated at 1:4000. VCFS is an autosomal dominant disorder. VCFS is inherited in only about 10 to 15 percent of the cases. In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown. The syndrome is often familial and is transmitted as an autosomal dominant trait. Deletion of the long arm of chromosome 22 (22q11) may be associated. VCFS occurs in approximately 5 to 8 percent of children born with a cleft palate. It is estimated that over 130,000 individuals in the United States have this syndrome.

Clinical Characteristics

The signs and symptoms of 22q11 deletion syndrome are so varied that different groupings of its features were once regarded as separate conditions. These original classifications included velo-cardio-facial syndrome, Shprintzen syndrome, DiGeorge syndrome, Sedlackova syndrome and conotruncal anomaly face syndrome. All are now understood to be presentations of a single syndrome. For the description of VCFS, it include a typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the Pierre Robin syndrome.There is great variation in the features of this syndrome. At least 30 different problems have been associated with the 22q11 deletion. None of these problems occur in all cases. The list includes: cleft palate, usually of the soft palate (the roof of the mouth nearest the throat which is behind the bony palate); heart problems; similar faces (elongated face, almond-shaped eyes, wide nose, small ears); learning difficulties; eye problems; feeding problems that include food coming through the nose (nasal regurgitation) because of the cleft palate; middle-ear infections (otitis media); hypoparathyroidism (low levels of the parathyroid hormone that can result in seizures); immune system problems which make it difficult for the body to fight infections; weak muscles; short height; curvature of the spine (scoliosis); and tapered fingers. Children are born with these features which do not worsen with age. Goldberg et al. (1993) reviewed the full spectrum of the velocardiofacial syndrome on the basis of 120 patients. Learning disability, cleft palate, and pharyngeal hypotonia were present in 90% or more of the patients; cardiac anomalies in 82%; slender hands and digits in 63%; medial displacement of internal carotid arteries in 25%; umbilical hernia in 23%; and hypospadias in 10% of males. Shprintzen et al. (1992) pointed out that psychotic illness is also a feature of VCFS in adolescents or adults. Children with VCFS had \'characteristic personality features,\' which were described as blunt or inappropriate affect, and that a greater than expected number of these children developed severe psychiatric illnesses as they approached adolescence.

Precipitants

None

Provocation Tests

No

Diagnostic Procedures

The investigation of choice is a standard karyotype to exclude major rearrangements and fluorescence in situ hybridization using probes from within the deletion segment.