Definition:
Prader-Labhart-Willi Syndrome, otherwise known as Prader-Willi syndrome (PWS), is a serious condition, which results to hypotonia, obesity, mental retardation, short stature, hypogonadotropic hypogonadism, and strabismus, among others, caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15.
Diagnosis:
The persons afflicted with Prader-Labhart-Willi syndrome (PWS) require medical care, evaluation for diseases associated with the condition, as well as therapy for behavioral issues. Also, some patients may require surgical care for treatment of complications of the disease. Consultations with experts, such as geneticists, development pediatrician, endocrinologist, nutritionist, ophthalmologist, psychiatrist may help in the treatment of this condition.
Treatment:
The persons afflicted with Prader-Labhart-Willi syndrome (PWS) require medical care, evaluation for diseases associated with the condition, as well as therapy for behavioral issues. Also, some patients may require surgical care for treatment of complications of the disease. Consultations with experts, such as geneticists, development pediatrician, endocrinologist, nutritionist, ophthalmologist, psychiatrist may help in the treatment of this condition.
Symptoms and Signs:
In infants, Prader-Labhart-Willi syndrome (PWS) exhibits the following symptoms: neonatal hypotonia, weak cry, poor suck, and genital hypoplasia. Children with prader-labhart-willi syndrome demonstrate late acquisition of major motor milestones. Short stature, behavioral problems and even mild mental retardation are likewise common symptoms in children.
Causes:
Prader-Labhart-Willi syndrome is caused by the loss of imprinted genomic material within the paternal copy of chromosome 15q11.2-13. Most symptoms of this condition may be attributed to hypothalamic dysfunction.
