Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial...
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"Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome". Am J Hum Genet. 66 (3): 768–77. doi:10.1086/302831. PMC 1288162...
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features. Today this condition is known as Crouzon's syndrome.[citation needed] For his entire career, Crouzon was interested in psychology, particularly...
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Craniosynostosis (redirect from Sagittal craniosynostosis syndrome)
Shprintzen-Goldberg syndrome: craniosynostosis with marfanoid habitus and tissue anomalies. Apert syndrome Carpenter syndrome Crouzon syndrome Muenke syndrome Pfeiffer...
71 KB (7,727 words) - 04:47, 31 October 2024
syndrome Cri du chat Crigler–Najjar syndrome Crome syndrome Cronkhite–Canada syndrome Cross syndrome Crouzon syndrome Crouzonodermoskeletal syndrome Crush...
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Craniosynostosis 4 Craniosynostosis and dental anomalies Crouzon syndrome Crouzon syndrome-acanthosis nigricans syndrome Cutis laxa, autosomal recessive, types 1B and...
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Acrocephalosyndactyly (ACS): type I – Apert syndrome type II – Crouzon syndrome type III – Saethre–Chotzen syndrome Robinow-Sorauf syndrome suggested to be included in...
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Crome syndrome Cronkhite–Canada syndrome Crossed polydactyly type 1 Crossed polysyndactyly Croup Crouzon syndrome Crouzonodermoskeletal syndrome Crow–Fukase...
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List of genetic disorders (redirect from List of genetic syndromes)
PMID 30031689. Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger...
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(Apert syndrome) Beare-Stevenson cutis gyrata syndrome Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Breast cancer, a mutation or single nucleotide...
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Crocq–Cassirer syndrome – Jean Crocq, Richard Cassirer Crohn disease – Burrill Bernard Crohn Cronkhite–Canada syndrome – L. W. Cronkhite, Wilma Canada Crouzon syndrome...
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"Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3"...
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Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature...
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Hydrocephalus (redirect from Water baby syndrome)
kleeblattschadel and frequently seen in syndomic cases (mostly in Crouzon syndrome). Hydrocephalus has also been seen in cases of congenital syphilis...
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Achondroplasia (redirect from Chondrodystrophy syndrome)
Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans". Endocrine Reviews. 21 (1): 23–39. doi:10...
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anomalies-porokeratosis syndrome Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Crouzon syndrome Meier-Gorlin syndrome 7 Neonatal diabetes...
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include Apert syndrome, cleidocranial dysostosis, Crouzon syndrome, Ehlers–Danlos syndrome, Gardner's syndrome, and Sturge–Weber syndrome. Some systemic...
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Ehlers–Danlos syndrome Crouzon disease Refsum syndrome Kniest syndrome Mandibulofacial dysostosis Sturge–Weber syndrome Conradi syndrome Pfaundler syndrome Pierre...
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Paternal age effect (category CS1 German-language sources (de))
FGFR2, FGFR3 and RET genes. These conditions are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, achondroplasia, thanatophoric dysplasia, multiple endocrine...
53 KB (5,539 words) - 05:19, 1 August 2024
(primary FGFR2) Crouzon syndrome (primary FGFR2) Crouzon syndrome-acanthosis nigricans syndrome (primary FGFR3) Jackson-Weiss syndrome (primary FGFR1 or FGFR2)...
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growth factor receptor 2 or FGFR2, cause both Jackson–Weiss syndrome and Crouzon syndrome. For some of these conditions, Jabs demonstrated the association...
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Crigler–Najjar syndrome type I; 218800; UGT1A1 Crigler–Najjar syndrome type II; 606785; UGT1A1 Crisponi syndrome; 601378; CRLF1 Crouzon syndrome with acanthosis...
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Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*". Endocrine Reviews. 21 (1): 23–39. doi:10...
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Championships. Quin was born in Edinburgh, Scotland in 1990. He has Crouzon syndrome and tunnel vision. He attended Willowpark Primary and completed his...
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Craniofacial surgery (category CS1 German-language sources (de))
and palate, micrognathia, Treacher Collins Syndrome, Apert's Syndrome, Crouzon's Syndrome, Craniofacial microsomia, microtia and other congenital ear anomalies...
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List of skin conditions (category CS1 German-language sources (de))
Cronkhite–Canada syndrome Crouzon syndrome Cutis verticis gyrata Darier's disease (Darier–White disease, dyskeratosis follicularis, keratosis follicularis) DeSanctis–Cacchione...
198 KB (17,956 words) - 10:27, 2 November 2024
achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans". Endocr Rev. 21 (1): 23–39. doi:10.1210/edrv...
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abnormalities and developmental disabilities, and Alec suffers from Crouzon's Syndrome, another rare disorder that causes hearing loss and cranial abnormalities...
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Brian Peppers, noted for his appearance, which suggests Apert syndrome or Crouzon syndrome. Found on the Ohio sex offender registry website, the photo gained...
301 KB (27,427 words) - 00:23, 17 November 2024
original on December 9, 2022. Retrieved February 23, 2023. Beeck, Nathalie op de (March 17, 2022). "SCBWI Announces Golden Kite Awards; Jason Reynolds Delivers...
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