The Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterised by the onset of symptomatology before 20 years of age, with a clinical picture consisting of ophthalmoparesis, palpebral ptosis, pigmentous retinitis, mitochondrial myopathy, and associated to at least one of the following items: defect in cardiac ...
Many people with Smith-Kingsmore syndrome have unusual facial features, such as a triangular face with a pointed chin, a protruding forehead (frontal bossing ), widely spaced eyes (hypertelorism ) with outside corners that point downward (downslanting palpebral fissures), a flat nasal bridge , or a long space between ...
Mutations in a gene called MTOR cause Smith-Kingsmore syndrome. The protein produced from this gene, called mTOR, is a key piece of two groups of proteins, known as mTOR complex 1 (mTORC1) and mTOR complex2 (mTORC2).
Definition. Liang-Wang syndrome (LIWAS) is a polymalformation syndrome apparent from birth that shows large phenotypic variability and severity. However, all patients have some degree of neurologic dysfunction.
Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.
Is triangular face shape rare? Triangular face shapes are less common than round or square ones, but are generally not that rare. A triangular face has wide cheekbones, a defined jawline and a pointed chin. The hairline is often wavy, often called a widow's peak.
Angelman syndrome is a rare and complex neurodevelopmental condition that causes developmental delays, intellectual disabilities, speech impairments and movement issues. It's caused by issues with a specific gene called UBE3A that happens during fetal development.
• King's syndrome is a sporadic genetic syndrome exhibiting characteristic facial features, short stature, and subclinical myopathy. Affected individuals are susceptible to malignant hyperthermia (MH) induced by anesthesia, stress, or trauma.
The primary characteristic of YM disease is Yang hyperactivity and internal excess heat. The common manifestations are fever without chills, a distended abdomen with pain when palpated, constipation, spontaneous sweating, aversion to heat, no aversion to cold, and a rapid, big pulse.
This is considered to be the rarest disease in the world. Ribose-5-Phosphate Isomerase (RPI), is a crucial enzyme in a metabolic process in the human body. This condition can cause muscle stiffness, seizures, and reduction of white matter in the brain.
Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly).
Sotos syndrome is the result of a genetic mutation — a change in a gene that makes it not work the way it should. About 95% of cases of Sotos syndrome occur due to a new genetic mutation in an egg or sperm cell. New genetic mutations happen randomly.
Causes. Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix ) of the DNA molecule.
The SKS (Russian: Самозарядный карабин системы Симонова, romanized: Samozaryadny karabin sistemy Simonova, lit. 'self-loading carbine of the Simonov system') is a semi-automatic rifle designed by Soviet small arms designer Sergei Gavrilovich Simonov in 1945.
Shao Yin (exterior yin) Syndrome: the pathogen is located in the exterior layer with a deficiency of body fluids causing the symptoms of aversion to cold without fever, sweating, headache, anxiety, drowsiness, lethargy, chills, cold extremities, joint, and body pain with a deep and constrained pulse.
Wei syndrome (WS) in Traditional Chinese Medicine (TCM) [1] is characterized by flaccidity and weakness of the limbs, which can result in the inability to move, with eventual atrophy of the muscles. In animals, the hind limbs tend to be particularly affected.
Jueyin syndrome is the last and most complex of the six conformations outlined in the classic, generally featuring chronic, obstinate, and complex disorders characterized by multiple organ involvement as well as intertwined heat and cold symptoms.
It is believed that Hemophilia was passed down for generations by Queen Victoria to her three children and is therefore known as the 'Royal Disease'. India has the second largest number of Hemophilia patients, after the United States, although only 15% of cases are registered and treated.
Little Prince/Princess Syndrome (PS) isn't found in medical textbooks but is real. Imagine living life as a fairy tale: focusing solely on pretty things, placing yourself at the centre of the universe, and obsessing about appearance—even when heading to the playground.
Low included comments from an unnamed source who said Harry would use the phrase "the palace syndrome" to label staff members who wouldn't fight battles with the press that he wanted them to. According to the source, he saw staff who didn't take action on his behalf as being institutionalized.
Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
What is Angelman syndrome, the rare disorder Colin Farrell's son has? The actor's son James has Angelman syndrome, a rare neurogenetic disorder. The Colin Farrell Foundation aims to raise awareness about intellectual disability.
Angelman syndrome causes delayed development, problems with speech and balance, mental disability, and, sometimes, seizures. Many people with Angelman syndrome smile and laugh often. They tend to be happy and easy to excite.
