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
Spastic paraplegia 29, autosomal dominant: A rare genetic disorder characterized mainly by progressive spasticity and weakness of the lower legs. The arms may also be affected in some cases.
Spastic paraplegia 3, autosomal dominant: A an early onset, very slow progressing form of spastic paraplegia which involves lower leg spasticity and weakness.
Spastic paraplegia 4, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles. The severity of the condition is very variable as is the age of onset.
Spastic paraplegia 6, autosomal dominant: A rare genetic disorder characterized by progressive leg spasticity and weakness.
Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.
Spastic paraplegia - neuropathy - poikiloderma: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs, peripheral nerve degeneration and a skin disorder called poikiloderma. The eyelashes and eyebrows are usually gone by the age of three.