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Infant with cloverleaf skull and shortened limbs (likely thanatophoric dysplasia), 1849 Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow chest , small ribs , underdeveloped lungs , and an enlarged head with a large forehead and prominent, wide-spaced eyes.
Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing"). Although prominence of the skull bones may be normal, skull bossing may be associated with certain medical conditions, [ 1 ] including nutritional, metabolic, hormonal ...
Specialty: Endocrinology: Symptoms: Enlargement of the hands, feet, forehead, jaw, and nose, thicker skin, deepening of the voice [3]: Complications: Type 2 diabetes, sleep apnea, high blood pressure, [3] high cholesterol, heart problems, particularly enlargement of the heart (cardiomegaly), osteoarthritis, spinal cord compression or fractures, increased risk of cancerous tumors, precancerous ...
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
The front of the skull often does not close until later, and those affected are often shorter than average. [1] Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. [1] Symptoms vary among people; however, intelligence is typically unaffected. [1] The condition is either inherited or occurs as a new ...
The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.
Macrocephaly is a condition in which circumference of the human head is abnormally large. [1] It may be pathological or harmless, and can be a familial genetic characteristic. . People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorde
Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism (an abnormally increased distance between the eyes), and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur.