Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations...
20 KB (1,867 words) - 05:59, 14 July 2024
siblings and, most of the time, parents are carriers. See Genetics. Craniofrontonasal dysplasia (CFND) is a rare type of FND with X linked inheritance. Multiple...
27 KB (3,457 words) - 16:32, 5 January 2024
can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon...
10 KB (1,104 words) - 10:00, 2 June 2024
Cohen syndrome 216550 VPS13B Craniofrontonasal dysplasia 304110 EFNB1 Dysgnathia complex 202650 Ectrodactyly–ectodermal dysplasia–cleft syndrome type 1 129900...
35 KB (2,499 words) - 18:40, 12 July 2024
osteoglyphic dysplasia Craniofrontonasal dysplasia Craniofrontonasal syndrome Teebi type Craniometaphyseal dysplasia dominant type Craniometaphyseal dysplasia recessive...
40 KB (3,657 words) - 03:02, 17 August 2024
heart defects and ectodermal dysplasia Cornelia de Lange syndrome Craniofacial dysplasia-osteopenia syndrome Craniofrontonasal syndrome Craniosynostosis-anal...
15 KB (1,463 words) - 10:18, 20 August 2024
microsomia, micrognathism (chin so small it causes health problems), craniofrontonasal dysplasias, craniosynostosis, as well as airway obstruction in babies caused...
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"Craniofacial dysplasia - osteopenia syndrome (Concept Id: C1970027)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02. "Craniofrontonasal dysplasia-Poland anomaly...
52 KB (2,779 words) - 19:17, 14 October 2023
CPT2 Cranioectodermal dysplasia; 218330; IFT122 Craniofacial-deafness-hand syndrome; 122880; PAX3 Craniofrontonasal dysplasia; 304110; EFNB1 Cranio-lenticulo-sutural...
234 KB (18,877 words) - 15:43, 9 May 2024
junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome". PLOS Biology. 4 (10): e315. doi:10.1371/journal.pbio.0040315...
173 KB (17,264 words) - 08:00, 8 May 2024