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Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, also simply known as Hartsfield syndrome, is a rare genetic disorder characterized by the presence of variable holoprosencephaly, ectrodactyly, cleft lip and palate, alongside generalized ectodermal abnormalities. Additional findings include endocrine anomalies and developmental delays.
SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare genetic disorder characterized by the presence of short stature, underdeveloped nails, facial dysmorphisms, and hair sparcity across the body. It is caused by homozygous, autosomal recessive mutations in the POC1A gene, located in the short arm of chromosome 3. Fewer than 15 cases have been described in the medical literature.
References
- ↑ "Fibular aplasia ectrodactyly". 16 June 2022.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Fibular aplasia ectrodactyly syndrome". www.orpha.net. Retrieved 2022-05-14.
- ↑ Gieruszczak-Bialek, D; Oldak, Monika; Skorka, Agata; Waligora, J; Korniszewski, L (2006-02-28). "Fibular aplasia with ectrodactyly - Broadening the clinical spectrum". European Journal of Medical Genetics. 49 (1): 83–6. doi:10.1016/j.ejmg.2005.04.019. PMID 16473314.
- ↑ Zárate, Juan Manuel Guevara; Rodríguez, Andrea J.; Ortiz, Carlos A. (2018-06-21). "Síndrome de FATCO (aplasia fibular, campomelia de tibia y oligosindactilia) en paciente masculino: reporte de caso". Revista Colombiana de Medicina Física y Rehabilitación. 28 (1): 70–74. doi: 10.28957/rcmfr.v28n1a7 . ISSN 2256-5655. S2CID 81733923.
- ↑ "OMIM Entry - 113310 - BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA". omim.org. Retrieved 2022-05-14.
- ↑ "Fibular aplasia ectrodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-14.
- ↑ Evans, Jane A.; Reed, Martin H.; Greenberg, Cheryl R. (2002-11-15). "Fibular aplasia with ectrodactyly". American Journal of Medical Genetics. 113 (1): 52–58. doi:10.1002/ajmg.10754. ISSN 0148-7299. PMID 12400066.
- ↑ Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Brachydactyly-Ectrodactyly, Fibular Aplasia/Hypoplasia Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved 2022-05-14
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