Other life insurance company also uses the same definition although some wordings might vary. 1 With hypotonia, an infant's arms and legs will appear "floppy." In some cases, these may be permanent. The cost to society for treatment, special education, and lost income is staggering. Individuals with this disorder may also have an unusually hoarse voice. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). Dr. Sorin devotes a great deal of time to the management and treatment of all forms of headache. The disordered eating that accompanies female athlete triad can range from … Definition of NEMO Deficiency Syndrome. Thus, if an athlete is suffering from one element of the triad, it is likely that they are suffering from the other two components of the triad as well. Patients with ED have thickened skin, conical teeth, absence of sweat glands, and thin, sparse hair. Fetal Alcohol Syndrome (FAS) Partial FAS (pFAS) ... or functional (e.g., cognitive and behavioral deficits, motor and coordination problems). Relative energy deficiency in sport (RED-S) is the result of insufficient caloric intake and/or excessive energy expenditure. With the North Texas Institute of Neurology & Headache in Plano, TX, Dr. Sorin has designed a practice which he prides himself on for having an old-school feel. Malicious parent syndrome, or malicious mother syndrome, refers to tactics employed by one parent to make the other parent look bad in the eyes of the law, which generally harms the children involved in custody disputes following divorce. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. Congenital heart defects (CHD) occur in approximately 75 percent of children with Williams syndrome. Prenatal testing is available for families with an affected daughter who has an identified MECP2 mutation. Triple X syndrome — also called trisomy X or 47,XXX — is a genetic disorder in which a woman carries an extra X chromosome in each of her cells. Breast development and menstruation may occur earlier than expected in females with Williams syndrome. Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide. Turner syndrome is a chromosomal disorder that affects development in females. Diagnosis is clinical. 1 Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8874, USA. These females are known as “asymptomatic female carriers.” top. The first symptom of Rett syndrome is usually the loss of muscle tone, called hypotonia (pronounced hahy-poh-TOH-nee-uh). 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