Although most frequently associated with velo-cardio-facial syndrome, or VCFS (often referred to as Shprintzen syndrome), Dr. Shprintzen is credited with describing three other genetic syndromes. These three other disorders are rare and have therefore received less attention than VCFS. They include:

Shprintzen-Goldberg craniosynostosis syndrome, Shprintzen omphalocele syndrome, and Goldberg-Shprintzen megacolon syndrome. If you are interested in any of these disorders, please contact Dr. Shprintzen and he will forward information to you, including copies of the original articles describing them. A brief synopsis is listed below:

Velo-cardio-facial syndrome: Velo-cardio-facial syndrome was the name applied to a series of 12 cases described by Dr. Shprintzen and colleagues at the Montefiore Medical Center in the Bronx in 1978. At the time, the syndrome was thought to be previously unrecognized, but in fact, cases had been described previously as part of several publications focused on individual systems, such as the cardiac, immunologic, and palatal aspects. In the earlier reports, not all cases were consistent with the diagnosis of VCFS, but most were. Dr. Shprintzen credits Dr. Angelo DiGeorge, Dr. Glen Cayler, Dr. William Strong, and Dr. Atsuyoshi Takao, Dr. Kazuo Momma, and Dr. Eva Sedláčková with having described cases of the syndrome as early as the 1950s (Dr. Sedláčková), the 1960s (Drs. DiGeorge and Strong), and 1970s (Drs. Takao and Momma). Dr. Shprintzen’s 1978 article approached the syndrome as a specific genetically caused disorder, and the name Shprintzen syndrome was attached to the disorder by his friend and mentor, the late M.Michael Cohen, Jr. in a 1979 article, and by his friend and mentor Dr. David Smith in the book “Recognizable Patterns of Human Malformation.” Dr. Shprintzen does not favor the term “22q11.2 deletion syndrome” because not all deletions from the chromosome region 22q11.2 cause the syndrome. This has led to mistaken diagnoses of VCFS based on deletions from 22q11.2 that have nothing to do with the anomalies seen in VCFS.

Shprintzen-Goldberg craniosynostosis syndrome: This syndrome, first described in two patients by Dr. Shprintzen and genetic counselor Rosalie Goldberg, M.S. in 1982, has striking craniofacial abnormalities, including craniosynostosis (premature fusion of the cranial sutures), spine anomalies, multiple abdominal hernias, developmental impairment, arachnodactyly (long fingers), and joint contractures. The syndrome is a well-recognized but rare disorder with approximately 30 cases reported in the medical literature. The genetics of this disorder have been confirmed with researchers showing that mutations in the gene SKI  located on the short arm of chromosome 1, specifically at 1p36.33. A gene known as FBN1 (fibrillin-1) had been reported to be associated with Marfan syndrome has been described by a few researchers as causing Shprintzen-Goldberg craniosynostosis syndrome. However, in reviewing the clinical findings in these cases, Dr. Shprintzen does not believe this is the case. He has also been following cases with the SKI mutation and is convinced that this is the gene responsible for causing the syndrome.

Shprintzen omphalocele syndrome: First reported by Dr. Shprintzen in 1979 as an autosomal dominant condition in a father and his two daughters, several more cases have since been described. The syndrome involves the presence of a characteristic facial appearance which is rather subtle, omphalocele (a herniation of internal organs through the abdominal wall), learning disabilities, scoliosis, and anomalies of the larynx and upper airway. Only a few other cases have been described.

Goldberg-Shprintzen megacolon syndrome: First reported in 1981, this syndrome was delineated in two siblings from normal parents leading to the conclusion that it was inherited in an autosomal recessive pattern. The clinical features include Hirschsprung megacolon, microcephaly, hypertelorism, submucous cleft palate, short stature, and learning problems. Since the initial description, researchers in France and the Netherlands have published additional cases, and a recessive mutation in a gene on chromosome 10, KIAA1279 has been confirmed to be the cause.