Velocardiofacial syndrome

Prevalence and causes

Also known as Shprintzen syndrome, this is an autosomal dominant disorder, first reported by Shprintzen in 1981. (39> Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, mental retardation, speech disorder, and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2.(4Q) This genetic abnormality is usually detected using fluorescence in situ hybridization.

Clinical features

Around 48 per cent of affected subjects are thought to have mental retardation, approximately two-thirds having mild mental retardation and one-third moderate to severe mental retardation. Thirty-two per cent are cognitively normal and 20 per cent have minor cognitive abnormalities not amounting to mental retardation including difficulty with abstraction, reading comprehension, and arithmetic skills. Seventy-five per cent have cardiac abnormalities, presenting with tetralogy of Fallot, ventricular septal defect, interrupted aortic arch, pulmonary atresia, and truncus arteriosus.

Characteristic facial features include microcephaly and in around 15 per cent of cases cleft palate or submucous cleft. About 32 per cent of affected subjects have velopharyngeal insufficiency without clefting, small open mouth, vertical maxillary excess with a long face, prominent tubular nose with squared nasal root and narrow alar base, hypoplasia of the adenoids leading to nasal speech, bulbous nasal tip, narrow palpebral fissue, minor auricular abnormalities. Ocular abnormalities such as small optic discs, tortuous retinal vessels, and cataract occur in about 7 per cent of cases.

Other features include hypocalcaemia in 60 per cent of cases, usually manifested in neonatal period often leading to seizures, short stature, hearing problems, renal problems, inguinal hernia, umbilical hernia, and frequent infections. About 10 per cent of males have hypospadias. Relatively slender hands with hypotonic and hyperextensible fingers are not uncommon. Behavioural problems are common in children and about 10 to 20 per cent of adults have psychiatric disorders including schizophrenic psychosis. Personality features have included blunted or inappropriate affect. (41>

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