Please if anyone knows anything about this-also known as Velo-cardio-facial syndrome-please e-mail or post a reply. My daughter and I went to a geneticist today to start the process for getting diagnosed for Charcot-Marie-Tooth Disorder and the geneticist tested my daughter for Shprintzen’s. I had never heard of it before. Her medical history and her LDs do support the connection. It will be two weeks before we know the results of the blood test.
Thanks
RC
I am taking a class in cranio/facial right now for my speech pathology degree.
I will be typing some things out of a brand new long awaited textbook called Cleft Palate Speech by Peterson-Falzone, Hardin-Jones and Karnell. I can make you a copy of the pictures in the book and mail it to you if this would help but here is the text. Your child should be on a speech pathologists caseload… I am sure you are really nervous waiting for the results but remember you can do something to help your child once you know what is happening with her. Does she have any nasalty in her speech? Did she have a cleft palate or submucous cleft? There is help out there… Hang in there…If I can be of further help let me know..
Velocardiofacial syndrome
in 1955 Sedlackova described an assocition of facial findings and velopharyngeal problems together with cupped ears and digital abnormalities in what was later to become recognized as the most frequently occurring syndrome of clefting. Subsequent reports in the 1960’s and 1970’s described inadequate velopharyngeal function for speech together with mildly dysmorphic facies and reduced facial expression. This group of findings was commonly referred to as “Sedlackova syndrome” until a 1978 report by SHPRINTZEN and collegues descrived “velocardiofacial syndrome” as a purportedly newly identified syndrome.
The report of Shprintzen et al, (1978) did not in fact describe a new entity but did lead to the recognition of additional findings, subsequent worldwide recognition of this entity as the most common syndrome involving clefts, and eventual identification of what may be the most changeable portion of the human genome. The syndrome is an autosomal dominant condition, with about 75% of the cases showing a microdeletion of genetic materal on the long arm of chromosome 22 (locus 22q11) There is a genetic overlap and an overlap of clinical features between velocardiofacial syndrome and DiGeorge sequence a condition that includes variable defects of the thymus gland, parathyroids, and cardiovascular vessels. That is, the midrodeletions of chromosome 22 found in patients with velocardiofacial syndrome encompass the region where deletions are found in DiGeorge syndrome, and many patients carry the signs of both disorders, to the extent that Driscoll et al suggested that the two disorders are etiologically the same.
According to Shprintzen the facial features of velocardiofacial syndrome include a vertically long face with a broad nasal root, narrow alar base, flattened malar region, narrow and downward slanted palpebral fissures, abundant scalp hair, and retruded mandible This report emanated from a large cleft palate-craniofacial program so it is not surprising that all 12 of the patients had clefts; seven submucous clefts, five overt clefts. The two additional common findings in this group of patients were ventricular septal defects and specific learning disabilities.
The threats to overall development, communication skills, educational progress, and life competency in this syndrome are myriad and complex. In addition to the speech problems resulting from cleft palate or inadequate velopharyngeal function, children with velocardiofacial syndrome are apt to exhibit language and learning difficulties. More than a decade ago, Golding—Kushner and colleagues, Weller and Shprintzen described specific problems in motor coordination and development of numerical concepts, which together with bland affect seemed to be a better predictor of later school problems than intelligence tests before age 6 years. Mental retardation is reportedly present in 40% of patients. A recent report of the psychoeducational profile in this syndrome documented full-scale IQ’s ranging from normal to moderately retarded in 33 patients and, interestingly a significantly higher mean verbal IQ than performance IQ. In addition many children in this study showed clinically significan language impairments, with mean langauge scores lower than the mean verbal IQ. They felt that the IQ and academic profiles were reminiscent of a nonverbal learning disability but urged that educational programming for children with velocardiofacial syndrome address both verbal and nonverbal deficits. Structural brain anomalies have been documented by MRI’s in enough patients to suggest that such anomalies are probably common in this syndrome. The catalogue of functional problmes also unfortunately includes a significant threat of onset of psychosis as the patient matures. The original alert to the possibility of mental illness appeared in a letter to the editor of a genetic journal in 1992. (Shprintzen, 1992) At that time it was thought that the prevalence might be on the order of 10%, subsequent investigations have shown an alarming association with psychotic illness and a gentic overlap b
between schizophrenia and velocardiofacial syndrome.
Every child or adult with a cleft or other type of dysfuction of the velopharyngeal mechanism should be evaluated and followed by an interdisciplinary team of specialists, and the pateint with velocardiofacial syndrome, whether exhibiting a mild or severe expression of this syndrome, illustrates the pitfalls in diagnosis and care if this model for care is not followed. Many of the potential problems for children with this syndrome will not become apparent until later years, to the point that the diagnosis may not even be made until the child has encountered difficulties in school and sociall experiences, to say nothing of medical complications. An additional problem with delays in diagnosis is family planning, because any individual showing clinical signs of the syndrome or the microdeletion on chromosome 22 has a 50% risk of passing the syndrome on to his or her children.