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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(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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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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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...
53 KB (5,567 words) - 08:45, 2 November 2024
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...
56 KB (6,819 words) - 03:44, 26 October 2024
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...
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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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(primary FGFR2) Crouzon syndrome (primary FGFR2) Crouzon syndrome-acanthosis nigricans syndrome (primary FGFR3) Jackson-Weiss syndrome (primary FGFR1 or FGFR2)...
20 KB (2,365 words) - 15:48, 21 December 2023
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...
42 KB (1,075 words) - 19:18, 2 November 2024