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Kawasaki disease (also known as mucocutaneous lymph node syndrome) is a syndrome of unknown cause that results in a fever and mainly affects children under 5 years of age. [6] It is a form of vasculitis, where medium-sized blood vessels become inflamed throughout the body. [1]
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.
Most frequent are symptoms due to conjunctival or corneal irritation: burning, photophobia, tearing, pain, and a gritty or sandy sensation. [4] Protruding eyeballs (known as proptosis and exophthalmos ). Diplopia (double vision) is common. [4] Limitation of eye movement (due to impairment of eye muscle function).
Rheumatology. A petechia ( / pɪˈtiːkiə /; [1] pl.: petechiae) is a small red or purple spot (≤4 mm in diameter) that can appear on the skin, conjunctiva, retina, and mucous membranes which is caused by haemorrhage of capillaries. [2] [3] The word is derived from Italian petecchia ' freckle ', of obscure origin. [1]
Apert syndrome. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial ...
Peeling skin syndrome 1 is caused by a genetic defect in the corneodesmosin (CDSN) gene. This gene localizes to the human epidermis and other epithelia. The protein experiences a chain of cleavages during corneocyte maturation. [6] Its symptoms include short stature, abnormality of metabolism/homeostasis, scaling skin, pruritus, erythema ...
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes ( polydactyly) or an abnormally wide thumb or big toe ( hallux ).
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.