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Facial deformity syndrome

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Associated symptoms and findings are extremely variable, including in rare cases in which more than one family member has been affected. For example, in some reported cases, one sibling has had all major features of the condition, while the other sibling has had only absence of pectoral muscle or hand involvement. However, as noted above, Poland Syndrome is most commonly characterized by absence of chest wall muscles on one side of the body unilateral as well as involvement of the hand on the same side ipsilateral. In approximately 75 percent of cases, such abnormalities affect the right side of the body.
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Apert Syndrome

Facial deformity syndrome
Facial deformity syndrome
Facial deformity syndrome
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Facts about Down Syndrome | CDC

The disorder is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for Angelo DiGeorge, the pediatrician who first described it in Some researchers prefer to call it DiGeorge anomaly, or DGA, rather than DiGeorge syndrome, on the grounds that the defects associated with the disorder represent the failure of a part of the human embryo to develop normally rather than a collection of symptoms caused by a single disease. The prevalence of DiGeorge syndrome is debated; the estimates range from to Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. DiGeorge syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics—cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia—caused by a deletion of several genes in chromosome The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip.
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Father with facial disfigurement branded 'cruel' for keeping daughter with same condition

Often, only one shoulder blade i. However, in some cases both shoulder blades can be affected. Generally, these abnormalities tend to be painless. The degree of elevation and displacement in Sprengel deformity can vary greatly from one person to another and can range from very mild, in which the abnormality cannot be seen when wearing clothes, to severe cases in which the shoulder is noticeably elevated.
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Occasionally we discover veterinary journal articles about one or a few cavalier King Charles spaniels being diagnosed with veterinary disorders rarely found in the breed. These disorders may not be categorized under any specific genetic disorder, and they may not be inherited at all. We include them here just to enable cavalier owners and veterinarians to be able to find them in the event their cavaliers are diagnosed similarly. Also, by means of a summary, we are fortunate that in the UK in , a veterinary clinic database has been surveyed to list the "Prevalence of disorders recorded in Cavalier King Charles Spaniels attending primary-care veterinary practices in England" , which includes 3, CKCSs. It lists numerous disorders and ranks them as they were diagnosed in the treatment of cavaliers in England from to
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