pain, and/or gastrointestinal bleeding and inflammation Rupture of the spleen or bowel Rupture of the uterus during pregnancy When a person has these particular features, it is important to be evaluated for Loeys-Dietz syndrome. [marfan.org]

Michaëlsson GOlsson EWestermark P The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. [jamanetwork.com]

[…] or malformation of the spine in the neck Skin Easy bruising, wide scars, soft skin texture, and translucent skin (when it looks almost see-through) Bones Club foot (when the foot is turned inward and upward at birth) Poor mineralization of the bones (osteoporosis [marfan.org]

In some individuals with Loeys-Dietz syndrome, other physical abnormalities have been noted, including defects at birth in the heart and brain, osteoporosis (weak bones), skin changes (such as translucent skin and/or easy bruising), and defects of the [medicinenet.com]

deformities, or contractures allergy medications and consulting with an allergist physical therapy to treat cervical spine instability consulting with a nutritionist for gastrointestinal issues No two people with Loeys-Dietz syndrome will have the same [healthline.com]

skin (when it looks almost see-through) Bones Club foot (when the foot is turned inward and upward at birth) Poor mineralization of the bones (osteoporosis) that can make the bones more likely to break) Other Allergies to food and elements in the environment [marfan.org]

Almost 100% of patients show some type of abnormal skin findings including translucent skin, soft or velvety skin, easy bleeding, easy bruising, recurrent hernias, and scarring problems. [hopkinsmedicine.org]

skin soft or velvety skin easy bruising easy bleeding eczema abnormal scarring Eye problems myopia, nearsightedness eye muscle disorders strabismus, eyes that don’t point in the same direction retinal detachment Other symptoms food or environmental allergies [healthline.com]

We present these findings to further characterize the cutaneous manifestations of LDS, to expand the differential for facial milia, and, most importantly, to increase awareness of possible presenting features of LDS, a recently described and potentially [jamanetwork.com]

Craniofacial signs as ocular hypertelorism, bifid uvula/cleft palate or craniosynostosis and cutaneous manifestations, as velvety and translucent skin, easy bruising, atrophic scars, are also present at variable degree [ 2 ],[ 3 ],[ 9 ],[ 11 ]. [bmcmedgenet.biomedcentral.com]

Features shared with LDS, but not MFS, include hypertelorism, bifid uvula, bicuspid aortic valve, mitral valve prolapse (MVP), arterial tortuosity, club feet, and thin skin with easy bruising [ 16 ]. [bmcmedgenet.biomedcentral.com]

Features shared with MFS and LDS include aortic aneurysm, mainly in thoracic tract, pectus deformity, arachnodactyly, scoliosis, joint hypermobility, and striae distensae in young age. [bmcmedgenet.biomedcentral.com]

People with Loeys-Dietz syndrome have unique facial features, like widely spaced eyes, an opening in the roof in the mouth ( cleft palate ), and eyes that don’t point in the same direction ( strabismus ) — but no two people with the disorder are alike [healthline.com]

The classical triad of Loeys-Dietz syndrome is described as 1 : arterial tortuosity and aneurysms hypertelorism bifid uvula or cleft palate Loeys-Dietz syndrome is rare, with prevalence estimated at less than one per 100,000. [radiopaedia.org]

Other facial features included hypertelorism and retrognathia. The oral cavity was notable for a high-arched palate and a broad uvula. [jamanetwork.com]

It is characterised by aortic and peripheral aneurysms and arterial tortuosity, bifid uvula and/or cleft palate, and hypertelorism, and is caused by mutations in the genes for the transforming growth factor β receptors 1 or 2 ( TGFBR1 at chromosome 9q33 [ncbi.nlm.nih.gov]

Other features of Loeys-Dietz syndrome include: Cardiovascular Arteries that twist and wind (arterial tortuosity) Heart defects at birth (atrial septal defect, patent ductus arteriosis, bicuspid aortic valve) Eyes, Head and Neck Widely-spaced eyes (hypertelorism [marfan.org]

Most individuals with this disorder have craniofacial features that include hypertelorism (widely spaced eyes) and a bifid or broad uvula. [hopkinsmedicine.org]