MedGen

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant. [from GeneReviews]

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. [from MONDO]

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. [from MONDO]

Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018). [from OMIM]

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. [from MONDO]

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene. [from MONDO]

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant. [from GeneReviews]

Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019). For a discussion of genetic heterogeneity of MMIHS, see 249210. [from OMIM]

Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018). [from OMIM]

An abnormal localized widening (dilatation) of the thoracic aorta. [from HPO]