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Cranial sutures. A defining characteristic of Crouzon syndrome is craniosynostosis, which results in an abnormal head shape.This is present in combinations of: frontal bossing, trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures ...
The mutations responsible for Marfan syndrome weaken the zonules and cause them to stretch. The inferior zonules are most frequently stretched resulting in the lens shifting upwards and outwards, but it can shift in other directions as well. Nearsightedness (myopia), and blurred vision are common due to connective tissue defects in the eye. [18]
Takayasu's arteritis (TA), also known as aortic arch syndrome, nonspecific aortoarteritis, and pulseless disease, [2] is a form of large vessel granulomatous vasculitis [3] with massive intimal fibrosis and vascular narrowing, most commonly affecting young or middle-aged women of Asian descent, though anyone can be affected.
Causes Mutations in the fibrillin-2 gene, in chromosome 5q23, or the fibrillin-1 gene, at chromosome 15q21.1 Arachnodactyly (" spider fingers ") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible.
The first and second arches disappear early. A remnant of the 1st arch forms part of the maxillary artery, [3] a branch of the external carotid artery. The ventral end of the second develops into the ascending pharyngeal artery, and its dorsal end gives origin to the stapedial artery, [3] a vessel which typically atrophies in humans [4] [5] but persists in some mammals.
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome.
Brachymetatarsia is a rare malformation that causes one or more toes to be abnormally short. The condition is characterized by a metatarsal arch shortness of more than 5 mm. The condition is more common in females, and the incidence reported in the literature ranges from 0.02% to 0.05%.