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Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with sgbs which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.
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Arterial tortuosity syndrome is an extremely rare congenital connective tissue condition disorder characterized by tortuosity, elongation, stenosis, or aneurysms in major and medium-size arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the person. Because ATS is so rare, relatively little is known about the disease compared to more common diseases.
Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation and global developmental delay.
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IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic disorder that is characterized by upper limb and ocular abnormalities and congenital hearing loss on both ears.
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Porencephaly-cerebellar hypoplasia-internal malformations syndrome is a rare autosomal recessive syndrome that mainly affects the central nervous system. It causes cardiac defects, brain anomalies, and craniofacial dysmorphisms. It has been reported in a pair of German siblings of the opposite sex born to consanguineous Turkish parents.
References
- ↑ "Meacham Winn Culler syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2023-01-04. Retrieved 2022-06-29.
- ↑ "OMIM Clinical Synopsis - #608978 - Meacham Syndrome". omim.org. Retrieved 2022-06-29.
- ↑ "Orphanet: Meacham syndrome". www.orpha.net. Retrieved 2022-06-29.
- ↑ "Meacham Syndrome". www.mendelian.co. 2022-06-29. Retrieved 2022-06-29.
- ↑ Suri, Mohnish; Kelehan, Peter; O'neill, David; Vadeyar, Shantala; Grant, Judith; Ahmed, S. Faisal; Tolmie, John; McCann, Emma; Lam, Wayne; Smith, Shirley; Fitzpatrick, David (2007-10-01). "WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations". American Journal of Medical Genetics. Part A. 143A (19): 2312–2320. doi:10.1002/ajmg.a.31924. ISSN 1552-4825. PMID 17853480. S2CID 20548643.
- ↑ "OMIM Entry - # 608978 - Meacham Syndrome". www.omim.org. Retrieved 2022-06-29.
- ↑ Meacham, L. R.; Winn, K. J.; Culler, F. L.; Parks, J. S. (1991-12-15). "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype". American Journal of Medical Genetics. 41 (4): 478–481. doi:10.1002/ajmg.1320410420. ISSN 0148-7299. PMID 1844355.
- ↑ "OMIM Entry - # 608978 - Meacham Syndrome". www.omim.org. Retrieved 2022-06-29.
- ↑ Killeen, Orla G.; Kelehan, Peter; Reardon, William (2002-01-01). "Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome". Clinical Dysmorphology. 11 (1): 25–28. doi:10.1097/00019605-200201000-00005. ISSN 0962-8827. PMID 11822701.
- ↑ Suri, Mohnish; Kelehan, Peter; O'neill, David; Vadeyar, Shantala; Grant, Judith; Ahmed, S. Faisal; Tolmie, John; McCann, Emma; Lam, Wayne; Smith, Shirley; Fitzpatrick, David (2007-10-01). "WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations". American Journal of Medical Genetics. Part A. 143A (19): 2312–2320. doi:10.1002/ajmg.a.31924. ISSN 1552-4825. PMID 17853480. S2CID 20548643.