Category: S

As the name suggests, the SAID diagnosis applies to false allegations of sexual abuse in the context of contested divorces. Divorce cases that have been prolonged in the court system or have unresolved custody and visitation issues are more likely to generate false accusations. The critical element in diagnosis is considering the contextual issues indicating…

Septo-optic dysplasia (SOD) is a birth defect characterized by a malformed optic disk and nerve, pituitary deficiencies, and often the absence of the septum pellucidum, which is a layer of nerve tissue that separates the two lateral ventricles of the brain. Without the septum pellucidum, communication between the ventricles of the midbrain is impaired. A…

Seitelberger disease is an inherited central nervous system condition that is characterized by progressive degeneration of muscular and coordination ability. The disease is inherited as an autosomal recessive trait. The symptoms and physical characteristics of Seitelberger disease occur due to swelling and degeneration of nerve endings (dystrophic axonal swellings) in areas of the brain and…

Schwartz-Jampel syndrome (SJS) is an autosomal recessive condition. It is characterized by muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. This disorder is caused by a genetic abnormality linked to one or more regions of the first chromo¬ some. This disorder is known by several other names: myotonic myopathy, dwarfism, chondrodystrophy,…

Schwachman syndrome (SS) is a rare, heritable disorder consisting of pancreatic insufficiency (inadequate amounts of pancreatic digestive enzymes), neutropenia (decreased number of neutrophils, a type of white blood cell), defects in neutrophil function, anomalous bone formation, postnatal growth retardation with poor weight gain (failure to thrive), and short stature. Patients are usually normal at birth…

Schmidt syndrome is an endocrine disorder that is diagnosed when there are several different malfunctions in the endocrine glands, which are responsible for the production of hormones. Hypothyroidism and Addison’s disease are the main characteristics of Schmidt syndrome, although problems with the functioning of other endocrine glands such as the gonads, parathyroids, and pancreas; insulindependant…

Schinzel-Giedion syndrome is thought to be inherited as an autosomal recessive trait. It is a terminal form of infantile epilepsy, and infants with Schinzel-Giedion syndrome rarely live beyond 2 years of age. It is characterized by midface retraction and anomalies of the skeleton, kidney, hair, and brain.  

Schilder disease is a very serious progressive disorder characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain and nervous system in addition to the dysfunction of the adrenal gland. There are three forms of this rare genetic disorder: childhood adrenoleukodystrophy (ALD) in 35% of cases, adrenomyeloneuropathy (AMN) occurring…

Sandhoff disease is a rare, genetic, lipid storage disorder that results in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme hexosaminidase that results in the accumulation of certain fats (lipids) in the brain and other organs of the body (National Institute of Neurological Disorders and Stroke…

Saethre-Chotzen syndrome is one variant in a group of rare disorders known as acrocephalosyndactyly. Saethre-Chotzen syndrome is a relatively mild form of acrocephalosyndactyly with a variable pattern of craniofacial, digital, and bone abnormalities. It is also known as acrocephalosyndactyly Type III (ACS III), Chotzen syndrome, and dysostosis craniofacialis with hypertelorism. Saethre-Chotzen syndrome is usually found…