Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
A snakebite is an injury caused by a bite from a snake, often resulting in puncture wounds inflicted by the animal's fangs and sometimes resulting in envenomation. Although the majority of snake species are non-venomous and typically kill their prey with constriction rather than venom, venomous snakes can be found on every continent except Antarctica. Snakes often bite their prey as a method of hunting, but also for defensive purposes against predators. Since the physical appearance of snakes may differ, there is often no practical way to identify a species and professional medical attention should be sought.
source: wikipedia
Sneddon Syndrome: A rare progressive inherited disorder involving the blood vessel disease and neurological symptoms.
Snowflake vitreoretinal degeneration: An inherited eye disease involving degeneration of the retina and characterized by light-colored spots on the retina. It is a slow-progressing condition.
Snyder-Robinson syndrome: A rare syndrome characterized by mental retardation, reduced muscle tone, abnormal walk, weak bones and an asymmetrical face.
Soft tissue sarcoma is a type of cancer that begins in the soft tissues. Soft tissues connect, support and surround other body structures. The soft tissues include muscle, fat, blood vessels, nerves, tendons and the lining of your joints.
Many types of soft tissue sarcoma exist. Some types are more likely to affect children, while others affect mostly adults. Soft tissue sarcoma can occur anywhere in your body, but the most common types occur in the abdomen and in the arms and legs.
Sohval-Soffer syndrome: A very rare syndrome characterized mainly by mental retardation, hypogonadism and skeletal abnormalities.
Somatostatinoma is a rare endocrine pancreatic tumor that secretes excesses of the hormone "somatostatin". that secretes excesses of the hormone "somatostatin
Sommer hines syndrome (medical condition): A very rare syndrome characterized by the presence of only one finger (fifth finger) on each hand and one toe (fifth toe) on each foot
Sommer rathbun battles syndrome is a rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation or it is characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormal kidneys.
Sommer young wee frye syndrome: Another name for Craniofacial - deafness - hand syndrome (or close medical condition association). Craniofacial - deafness - hand syndrome: A very rare syndrome characterized by facial anomalies, deafness and hand abnormalities.
Sondheimer syndrome: Another name for Coarse face - hypotonia - constipation (or close medical condition association). Coarse face - hypotonia - constipation: A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation.
Sonoda syndrome: An extremely rare disorder characterized by a congenital heart defect, round face, retarded development, short stature and various facial anomalies.
Sorbitol dehydrogenase deficiency (SORD Deficiency) is a progressive, debilitating hereditary neuropathy that affects peripheral nerves and motor neurons, resulting in significant disability, loss of sensory function and decreased mobility. Recently, mutations in the SORD gene resulting in loss of the enzyme sorbitol dehydrogenase (SORD) function, and consequent intracellular sorbitol accumulation, were shown to be responsible for disease in a subset of patients previously diagnosed with Charcot-Marie-Tooth disease (CMT2) or distal hereditary motor neuropathy (dHMN). These patients can now be more accurately diagnosed with SORD Deficiency.
SORD Deficiency impacts an estimated 1 in 100,000 individuals. In the U.S., there are about ~3,300 individuals with mutations in the SORD gene (~7-9% CMT2/dHMN patients). SORD’s role in metabolism is well defined, and an understanding of this genetic and biochemical basis of disease offers new opportunities for treatment of patients with neuropathy caused by SORD deficiency. There are currently no approved drugs for patients with SORD Deficiency.
Sotos syndrome (also known as cerebral gigantism) is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age.
Sparse hair - ptosis - mental retardation: A very rare syndrome characterized mainly by sparse hair, droopy eyelids and mental retardation.
Spasmodic dysphonia (SD), a focal form of dystonia, is a neurological voice disorder that involves involuntary "spasms" of the vocal cords causing interruptions of speech and affecting the voice quality. SD can cause the voice to break up or to have a tight, strained, or strangled quality.
Spastic ataxia, Charlevoix-Saguenay type: A rare disorder characterized mainly by spasticity of the legs, uncoordinated leg movements and eye anomalies.
Spastic diplegia, infantile type: A rare genetic disorder characterized by the early onset of lower leg spasticity and weakness and mental retardation.
Most children with diplegia have spaticity, and have difficulty with balance and coordination. Delayed muscle growth and spasticity cause their leg muscles to be short, and as a result the joints become stiff and the range of motion can decrease as a child grows. The feet and ankles present more problems than the knees, and the hips may become dislocated.
Spastic dysphonia: A rare speech disorder caused by stiffness of the muscles in the throat that control speech.
Tropical spastic paraparesis (TSP) is an infection of the spinal cord by Human T-lymphotropic virus resulting in paraparesis, weakness of the legs. As the name suggests, it is most common in tropical regions, including the Caribbean and Africa
Spastic paraplegia 20, autosomal recessive: A rare disorder characterized mainly by progressive stiffness, weakness and wasting of the lower leg muscles. The thumb muscle and speech is also affected
Spastic paraplegia 23: A rare disorder characterized mainly by progressive stiffness and weakness of the leg muscles, premature graying, characteristic facial appearance and a skin pigmentation anomaly. Pigmentation anomalies usually start from the age of 6 months and leg problems may be noticed around the middle of the first decade.
Spastic paraplegia 24: A rare genetic disorder characterized mainly by early onset of progressive weakness of the lower legs.
Spastic paraplegia 25, autosomal recessive: A rare genetic disorder characterized mainly by progressive weakness of the lower legs. The condition also involves herniation of spinal discs.
Spastic paraplegia 26, autosomal recessive: A rare genetic disorder characterized mainly by progressive weakness of the lower legs. The condition also involves herniation of spinal discs