Two physicians independently reported the first recognized cases of BWS in the 1960’s.It is a rare genetic disorder. The etiology of Beckwi...

Learn the facts about Treacher Collins syndrome. This disease causes a number of malformations during development in the womb of the face and cranium. It is caused by inherited or spontaneous mutations in the gene TCOF1 found on chromosome 5. This impacts the lifespan of the treacle protein, responsible for development of facial features. Visual signs and genetic tests can help diagnose Treacher Collins syndrome and treatment is handled through plastic surgery.

Down syndrome is a condition that is genetic and slows down mental and physical development. Statistics from the National Association for Down syndrome shows that one child out of every 691 has DS.

Background Clefts of the lip, alveolus, and palate (CLPs) rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in the prodomain of the transforming growth factor β1 (TGF-β1) gene have proved to be crucial to predisposition of several disorders. Methods In this study, polymorphism analysis was performed by real-time polymerase chain reaction (LightCycler) and TGF-β1 levels determined by enzyme-linked immunosorbent assay. Results Only 2/60 Caucasian non-syndromic patients with CLP (3.3%) carried the Arg25Pro and another 2/60 patients (3.3%) the Thr263Ile genotypes, whereas, in a control group of 60 healthy Caucasian blood donors, these heterozygous genotypes were more frequent 16.7% having Arg25Pro (10/60; p < 0.035) and 10,0% having Thr263Ile (6/60), respectively. TGF-β1 levels in platelet-poor plasma of heterozygous Arg25Pro individuals were lower than those of homozygous members (Arg25Arg) in the latter group, but this discrepancy narrowly failed to be significant. Although polymorphisms in codon 10 and 25 were associated with each other, no difference was found between patients and controls concerning the Leu10Pro polymorphism. Conclusions The genetic differences in codons 25 and 263 suggest that TGF-β1 could play an important role in occurrence of CLP, however, functional experiments will be required to confirm the mechanisms of disturbed development.

World Down Syndrome Day 21 March World Down Syndrome Day This day is observed to raise public awareness of Down syndrome, a congen...

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available.

Fetal Alcohol Syndrome is a completely preventable disability. It is incurable.

Personalized medicine. Predictive medicine. Targeted medicine. These are just some of the descriptors being applied to “genomic medicine,” a field of medical research generating much fanfare and hope for the future.

Case 1: This 4 mo old baby presents with this rash as well as new onset diarrhea, approximately 1 month after being weaned from breast milk. What is the likely diagnosis? What treatment does she require? Answer: Acrodermatitis Enteropathica This is an autosomal recessive disorder that affects the uptake of zinc. The mutation involves a zinc […]