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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
Prince Rogers Nelson (June 7, 1958 – April 21, 2016) was an American singer, multi-instrumentalist, songwriter, record producer, and actor. The recipient of numerous awards and nominations, he is widely regarded as one of the greatest musicians of his generation. [7] He was known for his flamboyant, androgynous persona; [8] [9] his wide vocal ...
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.
Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. Signs and symptoms. Features of this condition include: Abnormal heart morphology
Piebaldism refers to the absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair. It is a rare autosomal dominant disorder of melanocyte development. [2] : 867 Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented ...
Interactions involving Russia. COVID-19 pandemic. v. t. e. On August 24, 2023, after being indicted on racketeering and related charges, Donald Trump, former president of the United States, voluntarily surrendered himself to authorities at the Fulton County Jail in Atlanta, Georgia, where a mug shot of him was taken.
Crouzon syndrome: Widely spaced eyes, short-broad head, hearing loss, bulging eyes, beaked nose, low-set ears, strabismus, protruding chin, and short humerus and femur: FGFR2 & FGFR3: Pfeiffer syndrome: Widely spaced eyes, underdeveloped jaw, beaked nose, hearing loss, and bulging eyes: FGFR1 & FGFR2: Apert syndrome
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. [4] [5] Characteristic findings include kinky hair, growth failure , and nervous system deterioration.
Acrocephalosyndactyly. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.
Uncombable hair syndrome ( UHS) is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb. [4] It was first reported in the early 20th century. [5]
