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Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability , facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
2024 was packed with health care innovations, from a new blood test detecting Alzheimer’s disease to deep brain stimulation reversing paralysis. Heading into the New Year, medical experts are ...
The person normally leads a normal life with some assistance. Rare cardiopulmonary complications can be life-threatening. [23] Myotonic muscular dystrophy: 160900 602668: DMPK CNBP: AD: Adulthood Skeletal muscles, heart, other muscle groups Presents with myotonia (delayed relaxation of muscles), as well as muscle wasting and weakness. [24]
Early reports were split on the topic of whether ring chromosome 22 constituted a consistent syndrome or simply a finding in a heterogeneous group of intellectually disabled people. [14] One early case that drew attention to the syndrome was a report of monozygotic twin sisters with a ring 22, one of the first recorded reports of a shared ...
A former Playboy model killed herself and her 7-year-old son after jumping from a hotel in Midtown New York City on Friday morning. The New York Post reports that 47-year-old Stephanie Adams ...
In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism. Silver–Russell syndrome occurs in approximately one out of every 50,000 to 100,000 births. Males and females seem to be affected with equal ...
CKM syndrome, a cluster of conditions that may lead to heart disease, may affect 90% of U.S. adults. Doctors explain cardiovascular-kidney-metabolic syndrome.
Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and intellectual disability. Cases described in the literature show a clinical ...