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Condition
Larsen Syndrome
Larsen syndrome is a rare condition that mostly affects the development of bones. Symptoms vary but commonly include multiple joint dislocations, unusual face structure and a variety of cardiovascular abnormalities.
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Condition
Periodic Fever Syndrome
Children with periodic fever syndrome typically have recurring fevers combined with a rash, joint pain or swelling, sores in the mouth and abdominal pain. For treatment, rheumatologists may prescribe anti-inflammatory medication.
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Condition
Nager Syndrome
Nager Syndrome is a rare condition that affects the development of a child’s face, hands, and arms. Children are born with underdeveloped cheek bones, a small lower jaw, and often have a cleft palate.
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Condition
Nail-Patella Syndrome
Nail-patella syndrome is a rare condition causing irregular growth of the nails, knees, elbows, and pelvis. Symptoms vary in severity, even among members of the same family, and treatment includes bracing or surgery.
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Condition
Stickler Syndrome
Stickler syndrome, a genetic disorder, involves larger eyes, small nose and chin, cleft palate and joint issues. Craniofacial surgeons repair facial structure and palate. Orthopedic surgeons and rheumatologists treat bone and joints.
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Condition
T.A.R. Syndrome
Shriners Children physicians treat TAR syndrome, a rare disorder present at birth characterized by low levels of platelets in the blood and absence of the bones of the forearms.
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Condition
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome (EDS) affects the connective tissues, causing joints to become lax or unstable and abnormal skin elasticity. There are varying types. Shriners Children’s works to manage symptoms and improve overall quality of life.
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Condition
Goldenhar Syndrome
Babies with Goldenhar Syndrome have facial differences including missing or partial ear, cleft lip/palate and small jaw, and a spine curve. Craniofacial surgeons reconstruct face, ear and palate. Orthopedic surgeons straighten the spine.
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Condition
DiGeorge Syndrome
DiGeorge Syndrome, or 22q11.2 deletion syndrome, is when a small part of chromosome 22 is missing. This results in the poor development of several body systems. Symptoms vary but can include cleft palate.
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Condition
Klippel-Feil Syndrome
Klippel-Feil syndrome occurs when bones in the neck abnormally fuse together before birth. Signs include a short neck, a low hairline at the back of the head or limited ability to turn the neck.