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By adulthood, people with MED are of short stature or in the low range of normal and have short limbs relative to their trunks. Frequently, movement becomes limited at the major joints, especially at the elbows and hips. However, loose knee and finger joints can occur. Signs of osteoarthritis usually begin in early adulthood. [3]
Cobb syndrome is a rare congenital disorder characterized by visible skin lesions and spinal angiomas or arteriovenous malformations (AVMs). [1] The skin lesions of Cobb syndrome typically are present as port wine stains or angiomas, but reports exist of angiokeratomas , [ 2 ] angiolipomas , and lymphangioma circumscriptum . [ 3 ]
Visual snow syndrome (VSS) is an uncommon neurological condition in which the primary symptom is that affected individuals see persistent flickering white, black, transparent, or colored dots across the whole visual field. [7] [4] Other common symptoms are palinopsia, enhanced entoptic phenomena, photophobia, and tension headaches.
Trigonocephaly can either occur in a syndrome or isolated, all by itself. Trigonocephaly is associated with the following syndromes: Bohring-Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. [1]
The syndromes within CAPS overlap clinically, and patients may have features of more than one disorder. In a retrospective cohort of 136 CAPS patients with systemic involvement from 16 countries, [2] the most prevalent clinical features were fever (84% of cases, often with concurrent constitutional symptoms such as fatigue, malaise, mood disorders or failure to thrive), skin rash (either ...
Migraine prodrome phase symptoms. There are four possible phases of a migraine attack: prodrome, aura, attack and post-drome, the Mayo Clinic explains. Not everyone who gets a migraine attack will ...
Frontonasal dysplasia (FND) is a congenital malformation of the midface. [1] For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull ...
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper , associated with mutations in the ATP7A gene.