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  2. Apert syndrome - Wikipedia

    en.wikipedia.org/wiki/Apert_syndrome

    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 ...

  3. Eugène Apert - Wikipedia

    en.wikipedia.org/wiki/Eugène_Apert

    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 ...

  4. Acrocephalosyndactyly - Wikipedia

    en.wikipedia.org/wiki/Acrocephalosyndactyly

    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.

  5. Crouzon syndrome - Wikipedia

    en.wikipedia.org/wiki/Crouzon_syndrome

    Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...

  6. Alport syndrome - Wikipedia

    en.wikipedia.org/wiki/Alport_syndrome

    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.

  7. Fibroblast growth factor receptor 2 - Wikipedia

    en.wikipedia.org/wiki/Fibroblast_growth_factor...

    View/Edit Mouse. Fibroblast growth factor receptor 2 ( FGFR2) also known as CD332 ( cluster of differentiation 332) is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10. [5] [6] FGFR2 is a receptor for fibroblast growth factor . The protein encoded by this gene is a member of the fibroblast growth factor receptor ...

  8. Hearing loss with craniofacial syndromes - Wikipedia

    en.wikipedia.org/wiki/Hearing_loss_with...

    Patients with Crouzon syndrome sometimes exhibit malformations of the external ear and/or the middle ear, such as malalignment of the pinna (Peterson-Falzone et al., 2001). Literature has suggested that persons with Crouzon syndrome typically have conductive hearing loss caused by middle ear effusion (or fluid in the middle ear) and perforation ...

  9. Aarskog–Scott syndrome - Wikipedia

    en.wikipedia.org/wiki/Aarskog–Scott_syndrome

    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]

  10. Hypertelorism - Wikipedia

    en.wikipedia.org/wiki/Hypertelorism

    Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon syndrome, Wolf–Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along with piebaldism, prominent inner third of the eyebrows ...

  11. Syndactyly - Wikipedia

    en.wikipedia.org/wiki/Syndactyly

    Syndactyly. Partial simple syndactyly in the second and third toes. Specialty. Medical genetics. Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals. [1] but is an unusual condition in humans. The term is from Greek σύν, syn 'together' and δάκτυλος, daktulos 'finger'.