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Medical genetics. Muenke syndrome, also known as FGFR3-related craniosynostosis, [1] is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns.
Aarskog–Scott syndrome ( AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome. [3] [4]
Specialty. Medical genetics. Alport syndrome is a genetic disorder [1] affecting around 1 in 5,000-10,000 children, [2] characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. [3] Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life.
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.
Eugène Apert. Eugène Charles Apert (27 July 1868 – 2 February 1940) was a French pediatrician born in Paris . He received his doctorate in 1897 and afterwards was associated with the Hôtel-Dieu and Hôpital Saint-Louis. From 1919 until 1934, he worked at the Hôpital des Enfants-Malades in Paris. Pediatrician Jacques-Joseph Grancher (1843 ...
Möbius syndrome. A child with oromandibular-limb hypogenesis-Möbius syndrome. Notice the expressionless face (due to bilateral VII nerve palsies) and missing fingers. Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side.
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), [2] thereby changing the growth pattern of the skull. [3] Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the ...
Jackson–Weiss syndrome ( JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull ( craniosynostosis ), which prevents further growth of the skull and affects the shape of the head and face. This genetic disorder can also sometimes cause intellectual disability and crossed eyes. [2]