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Disability Glossary

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Seckel syndrome

Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head (microcephaly), receding forehead, large eyes, low ears, prominent beaklike protrusion of the nose, and smallish chin. Defects of bones in the arms and legs, dislocations of the elbow and hip, and inability to straighten the knees are all common as is (in boys) failure of the testes to descend into the scrotum (cryptorchidism). Underproduction of all types of blood cells (pancytopenia) occurs in some patients, as does chromosome instability.

Seckel syndrome has been called "bird-headed dwarfism" (a descriptive term that has come to be regarded as pejorative). Inside the small head, unfortunately, there is a very small brain. This usually means developmental delay and, later, mental retardation. About half of Seckel children have IQ below 50. Most children with Seckel syndrome are "friendly and pleasant" but "often hyperkinetic (hyperactive) and easily distracted."

This disease is genetic. It is inherited in an autosomal recessive manner. It is not a single homogeneous genetic disease and can be due to genes on chromosomes 3 and 18.

Sjögren-Larsson syndrome (SLS)

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder characterized by mental retardation, diplegia or tetraplegia, and congenital ichthyosis. The ichthyosis (usually evident at birth) may be seen in some patients after the first year of life. Also see the eMedicine Pediatrics article Sjögren-Larsson Syndrome.

Smith-Magenis syndrome

Smith–Magenis Syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems. Smith-Magenis syndrome affects an estimated 1 in 25,000 individuals.

The syndrome is due to an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.

Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy (wasting away) and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness. These patients often require comprehensive medical care involving multiple disciplines, including pediatric pulmonology, pediatric neurology, pediatric orthopedic surgery, Lower Extremity & Spinal Orthosis, pediatric critical care, and physical medicine and rehabilitation; and physical therapy, occupational therapy, respiratory therapy, and clinical nutrition. Genetic counseling is also helpful for the parents and family members. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable.

The term "juvenile spinal muscular atrophy" refers to Kugelberg-Welander syndrome.