Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism, is an autosomal recessive congenital malformation syndrome involving both upper and lower extremities.
Neuroleptic malignant syndrome (NMS) is a rare but life-threatening reaction that can occur in response to neuroleptic or antipsychotic medication. Symptoms include high fever, confusion, rigid muscles, variable blood pressure, sweating, and fast heart rate. Complications may include rhabdomyolysis, high blood potassium, kidney failure, or seizures.
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, 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.
Heterochromia is a variation in coloration. The term is most often used to describe color differences of the iris, but can also be applied to color variation of hair or skin. Heterochromia is determined by the production, delivery, and concentration of melanin. It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury. It occurs in humans and certain breeds of domesticated animals.
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.
Horner's syndrome, also known as oculosympathetic paresis, is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged. The signs and symptoms occur on the same side (ipsilateral) as it is a lesion of the sympathetic trunk. It is characterized by miosis, partial ptosis, apparent anhidrosis, with apparent enophthalmos.
Harlequin syndrome is a condition characterized by asymmetric sweating and flushing on the upper thoracic region of the chest, neck and face. Harlequin syndrome is considered an injury to the autonomic nervous system (ANS). The ANS controls some of the body's natural processes such as sweating, skin flushing and pupil response to stimuli. Individuals with this syndrome have an absence of sweat skin flushing unilaterally, usually on one side of the face, arms and chest. It is an autonomic disorder that may occur at any age. Harlequin syndrome affects fewer than 200,000 people in the United States.
Anisocoria is a condition characterized by an unequal size of the eyes' pupils. Affecting up to 20% of the population, anisocoria is often entirely harmless, but can be a sign of more serious medical problems.
Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978, since then just over 100 cases have been reported. The syndrome, is called triple aaa due to the manifestation of the illness which include achalasia, addisonianism, and alacrima. Alacrima is usually the earliest manifestation. Neurodegeneration or atrophy of the nerve cells and autonomic dysfunction may be seen in the disorder, therefore some have suggested the disorder be called 4A syndrome. It is a progressive disorder that can take years to develop the full-blown clinical picture. The disorder also has variability and heterogeneity in presentation.
4-Hydroxyamphetamine (4HA), also known as hydroxyamfetamine, hydroxyamphetamine, oxamphetamine, norpholedrine, para-hydroxyamphetamine, and α-methyltyramine, is a drug that stimulates the sympathetic nervous system.
Apraclonidine (INN), also known under the brand name Iopidine, is a sympathomimetic used in glaucoma therapy. It is an α2 adrenergic receptor agonist and a weak α1 adrenergic receptor agonist.
Iduronate 2-sulfatase is a sulfatase enzyme associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.
Parry–Romberg syndrome (PRS) is a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face but occasionally extending to other parts of the body. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but the precise cause and pathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a possible consequence of sympathectomy. The syndrome has a higher prevalence in females and typically appears between 5 and 15 years of age.
Brown-Séquard syndrome is caused by damage to one half of the spinal cord, i.e. hemisection of the spinal cord resulting in paralysis and loss of proprioception on the same side as the injury or lesion, and loss of pain and temperature sensation on the opposite side as the lesion. It is named after physiologist Charles-Édouard Brown-Séquard, who first described the condition in 1850.
Tumor protein p63, typically referred to as p63, also known as transformation-related protein 63 is a protein that in humans is encoded by the TP63 gene.
AladinTM, also known as adracalin, is a nuclear envelope protein that in humans is encoded by the AAAS gene. It is named after the achalasia–addisonianism–alacrima syndrome which occurs when the gene is mutated.
A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia. There are 36 rare diseases regarded as Finnish heritage diseases. The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns.
The Gabra are related to the wider Oromo people in the Horn of Africa, they mainly inhabit the Moyale and Marsabit regions of northern Kenya and the highlands of southern Ethiopia they were mostly practice Islam and Christianity as religion but maintain mandatory cultural practice Ethiopia..
The hypothalamospinal tract arises mainly from the paraventricular nucleus, lateral and posterior hypothalamic areas. This tract descends through the periaqueductal gray and adjacent reticular formation. The hypothalamospinal tract also connects the hypothalamus to the ciliospinal center of the intermediolateral cell column in the spinal cord. It is found in the dorsolateral quadrant of the lateral funiculus, in the lateral tegmentum of the medulla, pons and midbrain. Lesions of the hypothalamospinal tract cause ipsilateral Horner's syndrome.
A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping. Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques.
(what is this?) (verify) 
