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Superior thyroid cornu syndrome

Superior thyroid cornu syndrome refers to a situation when there is precipitation of dysphagia and /or other symptoms as a hypertrophy +/- ossification of one of both the both of the superior horns (cornu) of the thyroid cartilage. This can also result from extreme medial deviation. Treatment a...

Autoinflammatory diseases with periodic fevers

There are several autoinflammatory diseases with periodic fevers. These include familial mediterranean fever (FMF) cryopyrin-associated periodic syndrome (CAPS) tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) hyperimmunoglobulinemia D and periodic fever syndrome / m...

Tumor necrosis factor receptor-associated periodic syndrome

Tumor necrosis factor receptor-associated periodic syndrome (or sometimes abbreviated as TRAPS) is a condition characterized by recurrent (periodic) episodes of fever as well as a spectrum of dermatologic findings that includes migratory patches, edematous plaques, periorbital edema, and/or conj...

Peroxisome biogenesis disorder

Peroxisome biogenesis disorders (PBDs) are autosomal recessive, inborn errors of peroxisomes, a eukaryotic cell organelle critical to the breakdown of very long chain fatty acids via beta-oxidation. Clinical presentation There are two main groups 1: Zellweger spectrum disorder (ZSD) Zellweg...

Robinow-Sorauf syndrome

Robinow-Sorauf syndrome (RSS) is a rare, autosomal dominant type of acrocephalosyndactyly syndrome (ACS). Rather than being a distinct ACS, it has now generally accepted that RSS is, in fact, part of the Saethre-Chotzen syndrome phenotypic spectrum 1. This is due to similar phenotype and both b...

Pickardt syndrome

Pickardt syndrome also known as Pickardt-Fahlbusch syndrome is a rare syndrome characterized by tertiary hypothyroidism, hyperprolactinemia and other pituitary hormone deficiencies resulting from interruption of the portal blood supply of the anterior pituitary via the infundibulum which drains ...

Plantaris friction syndrome

Plantaris friction syndrome is a rare cause of Achilles tendinopathy. Pathology While its pathogenesis is incompletely understood, some authors suggest that it may relate to the presence of a compressive tendinopathy between the Achilles tendon and plantaris tendon with resultant inflammation ...

Börjeson-Forssman-Lehmann syndrome

Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability obesity seizures gonadal failure (testes in males or the ovaries in females) to produce hormones (hypogonadism) distinctive facial features. Affected infants tend to experience ...

Cerebellar mutism syndrome

Cerebellar mutism syndrome, also known as post-operative pediatric cerebellar mutism syndrome (pCMS), usually develops after resection of midline cerebellar or intraventricular tumors in the posterior cranial fossa. Typical features of this condition are transient mutism, ataxia, hypotonia and i...

Subacute encephalopathy with seizures in alcoholics (SESA syndrome)

Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare complication of chronic alcohol use that can present with seizures and a variety of neurological deficits. Epidemiology SESA syndrome is rare and seen in alcoholics who are not undergoing withdrawal 1-3. Clinical ...

Bone marrow edema syndrome of the foot and ankle

Bone marrow edema syndrome of the foot and ankle, also known as transient bone marrow edema syndrome of the foot and ankle, refers to the presence of self-limited, patchy bone marrow T2 hyperintensities in the bones of the ankle and/or foot of unknown etiology. It is related to transient osteopo...

Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses. Epidemiology More than 80 cases have been reported in the global literature since its f...

Adductor canal syndrome

Adductor canal syndrome (also known as adductor canal compression syndrome) is a rare, non-atherosclerotic cause of arterial occlusion and limb ischemia 1. There is compression of the superficial femoral artery (SFA) in the adductor canal. Epidemiology External compression of the superficial f...

Sepsis

Sepsis is a syndrome, with a poorly understood pathogenesis, characterized clinically by a recognized set of signs and symptoms in someone with presumed infection. Terminology Sepsis was defined by The Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3) in 2016 as ...

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare neurodegenerative balance disorder characterized by cerebellar ataxia, sensory neuronopathy (ganglionopathy), and bilateral vestibular hypofunction. Epidemiology The epidemiology is yet to be defined, but CA...

Familial atypical multiple mole melanoma syndrome

Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi (often more than 50) and a family history of melanoma. Pathology Genetics It is associated with mutations in the CDKN2A gene and shows reduced penetranc...

Pfeiffer syndrome

Pfeiffer syndrome (also known as type V acrocephalosyndactyly) is characterized by skull and limb abnormalities. Epidemiology It affects about 1 in 100,000 births Clinical presentation craniosynostosis hypertelorism proptosis maxillary hypoplasia brachydactyly syndactyly Pathology Pfe...

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities. Epidemiology It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals. Males and females are equally affected. Clinical presentation The spe...

Progressive postnatal pansynostosis

Progressive postnatal pansynostosis (PPP) is a rare form of craniosynostosis characterized by the late fusion of all cranial sutures. Epidemiology This type of craniosynostosis occurs insidiously after birth and presents later in life unlike other types of craniosynostosis which occur during t...

Acardius anephus

Acardius anephus is a morphologic subtype of an acardiac twin in the twin reversed arterial perfusion (TRAP) sequence. In this entity, no cephalic or structures are present, but the lower limbs are preserved. This is the most common subtype, seen in 60-75% of cases1.

Frey syndrome

Frey syndrome (also known as Baillarger syndrome, Dupuy syndrome, and auriculotemporal syndrome) is a complication of parotid surgery. It clinically manifests as sweating and reddening in the region of the face supplied by the auriculotemporal nerve. The symptoms typically occur when tasting foo...

Constrictive pericardial syndrome

Constrictive pericardial syndromes include 1: transient constrictive pericarditis a complication of acute (inflammatory) pericarditis in which the inflamed pericardium causes constrictive hemodynamics resolution occurs within several weeks chronic constrictive pericarditis persistence of c...

Cavernous sinus syndrome

Cavernous sinus syndromes refer to constellations of clinical signs and symptoms referable to pathology within or adjacent to the cavernous sinus. Clinical presentation Patients present with multiple unilateral cranial neuropathies involving any combination of the following: ophthalmoplegia (...

Thiamine deficiency

Thiamine deficiency is caused by a low level of thiamine (vitamin B1) in the body, and when severe, a deficiency may manifest in adults as beriberi. There are two main forms: wet beriberi: high-output cardiac failure predominates Shoshin beriberi 3: severe acute wet form with high mortality d...

Manganism

Manganism (also known as acquired hypermanganesemia) is the clinical syndrome resulting from acute or chronic overexposure to the transition metal manganese, one of the essential trace elements. It primarily manifests as parkinsonism and is frequently clinically, radiologically and histopatholog...

Giant axonal neuropathy

Giant axonal neuropathy is a rare, autosomal recessive neurodegenerative disease of both the peripheral nervous system (PNS) and the central nervous system (CNS). It is one of the inherited leukodystrophies. Epidemiology Approximately 50 affected families have been reported in the literature;...

Wolff-Parkinson-White syndrome

The Wolff-Parkinson-White syndrome describes paroxysmal tachydysrhythmias in the presence of a specific accessory pathway which allows direct electrical connection between the atria and ventricles, which usually exclusively occurs via the atrioventricular (AV) node. The accessory pathway is usua...

Brugada syndrome

A cardiac "channelopathy" resulting from mutations in genes coding for cardiac sodium (Na+) channels, the Brugada syndrome is a common cardiac cause of sudden death in patients with structurally normal hearts. Epidemiology Age of diagnosis ranges from 2 days to 84 years old. It is estimated to...

Dentatorubral–pallidoluysian atrophy

Dentatorubral–pallidoluysian atrophy (DRPLA) is a clinically heterogenous autosomal dominant CAG repeat expansion disorder that is particularly prevalent within the Japanese population. Epidemiology The majority of case reports are in patients of Japanese origin, where disease prevalence is 1...

Alpers syndrome

Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1. Epidemiology Alpers syndrome is incredibl...

Abdominal compartment syndrome

Abdominal compartment syndrome (ACS) is a disease defined by the presence of new end-organ dysfunction secondary to elevated intra-abdominal pressure (IAP). Radiological diagnosis is difficult and usually suggested when a collection of imaging findings are present in the appropriate clinical set...

Chorea-acanthocytosis

Chorea-acanthocytosis (ChAc) is an autosomal recessive, progressive neurological disorder. It is the commonest of the four core neuroacanthocytosis syndromes (NAS). Symptomatology includes movement disorder, acanthocytosis, elevated creatinine kinase, and atrophy of the basal ganglia. Epidemio...

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy as a systemic and central nervous system inflammatory syndrome characterized by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TO...

Neuroacanthocytosis syndromes

Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterized by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein. There are four core NAS: chorea-acanthocytosis (ChAc) McLeod syndrome (MLS) Huntington disease-like ...

Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly. Epidemiology Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...

Sjögren-Larsson syndrome

Sjögren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous syndrome and leukodystrophy characterized by the clinical triad of ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Epidemiology Although considered very rare, the exact prevalence is not k...

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A. The syndrome's key characteristics are: phal...

Subependymal hamartoma

Subependymal hamartomas are seen in patients with tuberous sclerosis. They are located along the ventricles and are mostly asymptomatic. As with other hamartomas, they grow at the same rate as the surrounding tissues. On imaging, they appear as small intraventricular masses, smaller than 1 cm, ...

Muscle-eye-brain disease

Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities. Clinical presentation There is severe intellectual di...

Renal cysts and diabetes syndrome

Renal cysts and diabetes syndrome (RCAD), also known as maturity-onset diabetes of the young, type 5 (MODY5), refers to the combination of renal cortical cysts and diabetes mellitus in patients with mutations in the HNF1B gene. When renal cysts are associated with these mutations without disturb...

Abdominal migraine

Abdominal migraine is a syndrome that presents as recurrent episodes of severe paroxysmal abdominal pain, coupled with vasomotor symptoms, nausea, and emesis that lasts for at least 1 hour 3. Historically it has tended to be a pediatric diagnosis, but it is now increasingly seen in adults. It is...

Functional gastrointestinal disorders

The functional gastrointestinal disorders (FGIDs) are a set of conditions characterized by their chronic GI manifestations, in the absence of structural abnormality of the gut. These conditions are common and may be disabling in nature. The understanding of their pathogenesis is incomplete, comp...

Irritable bowel syndrome

Irritable bowel syndrome (IBS) is the commonest of the functional gastrointestinal disorders (FGIDs). Its key presenting features are recurrent abdominal pain and change in bowel habit (diarrhea and/or constipation), which may be severe, such that for an individual, there may be a marked negativ...

Neurofibromatosis type 1 (mnemonic)

Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1. These diagnostic criteria can be remembered with the mnemonic: CAFE SPOT Mnemonic C: café-au-lait spots (greater than six seen during one year) A: axillary or ingui...

Smith-Magenis syndrome

Smith-Magenis Syndrome (SMS) is a rare genetic syndrome which results from an interstitial deletion in chromosome 17p11.2. Terminology The condition is known by several other names which are all similar variants related to its underlying karyotype: 17p deletion syndrome, 17p11.2 monosomy, chro...

Posterior semicircular canal dehiscence syndrome

Posterior semicircular canal dehiscence syndrome (PSCD) is the presence of vestibuloauditory symptoms secondary to absence of the bony covering of the posterior semicircular canal (PSC). Epidemiology It is thought to be rare: in a case series of 112 patients with a high riding jugular bulb it ...

Cuboid syndrome

Cuboid syndrome is a cause of lateral midfoot pain, believed to result from abnormal articulation of the cuboid with the calcaneus (calcaneocuboid joint). Clinical presentation Cuboid syndrome presents with lateral foot pain and swelling, often diffuse and similar to an ankle (ligament) sprain...

Valgus extension overload syndrome

Valgus extension overload syndrome, also known as pitcher's elbow, refers to a constellation of symptoms and pathologies commonly seen in overhead throwing athletes secondary to high repetitive tensile, shear and compressive forces generated by the overhead throwing motion. The syndrome may cor...

Slipping rib syndrome

Slipping rib syndrome, also known as Cyriax syndrome, occurs when hypermobility of the rib cartilage of the lower ribs slips and moves, leading to pain in the lower chest or upper abdomen 1. Epidemiology This condition may occur at any age, but is reportedly more common in middle-aged adults, ...

Gillespie syndrome

Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers. Associated features include an unch...

Rieger anomaly

The Rieger anomaly refers to the maldevelopment of the anterior chamber of the ocular globe. The iris and cornea do not form correctly, findings including: hypoplastic iris stroma corectopia: an off-center pupil in the iris colobomas of the iris (pseudopolycoria) Patients are at increased ri...

Disseminated intravascular coagulation

Disseminated intravascular coagulation (DIC), also known as consumption coagulopathy or defibrination syndrome, refers to a systemic phenomenon of overactivation of coagulation and fibrinolysis resulting in widespread clots forming inside blood vessels. Clinical presentation Patients present w...

Superior orbital fissure syndrome

Superior orbital fissure syndrome (SOFS) (also known as Rochon–Duvigneaud syndrome) is a rare complication of craniofacial trauma with an orbital fracture that extends to the superior orbital fissure that results in injury to the cranial nerves III, IV, V (ophthalmic branch of the trigeminal ner...

Interstitial cystitis

Interstitial cystitis, also known as bladder pain syndrome, is a chronic, non-infectious, inflammatory condition of poorly understood etiology that affects the urinary bladder. It is defined as urinary bladder pain and irritative symptoms of more than six months duration. It usually represents a...

Flat back syndrome

Flat back syndrome (FBS) refers to the decrease or absence of the normal lumbar lordosis resulting primarily in chronic lumbar pain. Terminology Flat back syndrome is a different condition from straight back syndrome and the two should not be confused or conflated. Clinical presentation Mos...

Athlete heart syndrome

Athlete heart syndrome refers to adaptations in both cardiac structure and function seen in people engaged in high-performance and endurance physical exercise. Epidemiology The prevalence of the condition has increased due to the increased popularity of recreational exercise, approx 3.6/100,00...

Cystinosis

Cystinosis, also known as Abderhalden Kaufmann Lignac syndrome, is the most common hereditary cause of renal Fanconi syndrome. Cystinosis is one of the lysosomal storage disorders. Epidemiology It has a reported incidence of 1:192,000 1. Cystinosis is typically diagnosed in infancy. Clinica...

Syndrome

A syndrome is a constellation of symptoms and signs that appear to be associated and which point towards a definite condition for which the etiology and/or pathogenesis remain to be properly defined. When the cause of a syndrome is understood, it becomes a disease 1,2. This meaning is not alway...

Gullo syndrome

Gullo syndrome, also known as benign pancreatic hyperenzymemia, is characterized by the abnormal elevation of the serum levels of most or all of the pancreatic enzymes without any evidence of underlying pancreatic pathology. It is a diagnosis of exclusion made when all other laboratory assays an...

Hyperparathyroidism-jaw tumor syndrome

Hyperparathyroidism-jaw tumor syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumors, most notably, tumors in the mandible or maxilla 2. Epidemiology Approximately 200 cases have been reported in the med...

Metabolic syndrome

The metabolic syndrome, also known as syndrome X, is a set of five conditions, which together increase a patient's risk of developing cardiovascular disease 1. Clinical presentation There are five central components of metabolic syndrome: hyperinsulinemia impaired glucose tolerance dyslipid...

Hand-foot syndrome (chemotherapy)

Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterized by a widespread erythema, edema and ulceration of the hands and feet. Causative drugs Many chemotherapeutic...

Neurovascular compression syndromes

Neurovascular compression syndromes are a form of vascular compression disorders where there is usually compression or distortion of a cranial nerve due to a redundant or aberrant vascular structure. Clinical presentation Not all cases of neurovascular contact are clinically symptomatic. Prese...

Acute compartment syndrome

Acute compartment syndrome is a limb and life-threatening surgical emergency. It is a painful condition caused by increased intracompartmental pressure, compromising perfusion and resulting in muscle and nerve damage within that compartment. Epidemiology Acute compartment syndrome is more comm...

Systemic inflammatory response syndrome

The systemic inflammatory response syndrome (SIRS) refers to a pathophysiological state in patients with a critical non-infectious or infectious illness. It is non-specific and although commonly associated with sepsis can be seen in many life-threatening illnesses. Clinical presentation Diagno...

Wernicke aphasia

Wernicke aphasia, also known as receptive aphasia or sensory aphasia, is a type of fluent aphasia usually caused by injury (e.g. stroke) to the dominant posterior temporal lobe (Wernicke's area) 1,2. Clinical presentation Wernicke aphasia has classic effects on speech 1,2: fluency: fluent spe...

Antley-Bixler syndrome

Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common. Epidemiology It is a very rare condition with only 50 cas...

Man-in-the-barrel syndrome

Man-in-the-barrel syndrome is a neurological syndrome characterized by bilateral brachial muscular weakness. Pathology This syndrome is usually caused by bilateral cerebral lesions in the border zone between the anterior and middle cerebral arteries. Etiology The syndrome has been described ...

Femoral facial syndrome

Femoral facial syndrome, also known as femoral hypoplasia-unusual facies syndrome, is a rare congenital syndrome characterized by varying degrees of femoral hypoplasia and facial dysmorphism 1. Clinical presentation Femoral facial syndrome can cause varying degrees of femoral malformation rang...

Glycogen storage disease type I

Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel. Epidemiology It occurs approximately one in every 100,000 live births 2,...

Brissaud-Sicard syndrome

Brissaud-Sicard syndrome is a very rare pontine stroke syndrome that involves the anterolateral and inferior pons. Clinical presentation Classically, the syndrome presents as ipsilateral facial cramps and contralateral hemiparesis 1-3. Pathology It has been postulated that the syndrome is ca...

Brown syndrome (orbit)

Brown syndrome refers to a failure of upward gaze while the eye is adducted secondary to an abnormality of the superior oblique tendon sheath complex. Pathology This abnormality is a little counter-intuitive and highlights how the action of the superior oblique is position-dependent and that e...

Gasperini syndrome

Gasperini syndrome is a rare pontine stroke syndrome that involves the caudal pontine tegmentum. Clinical presentation Classically, the syndrome presents with 1-3: involvement of the CN V nucleus (sensory nucleus of the trigeminal nerve): ipsilateral facial sensory loss involvement of the CN...

Organophosphate poisoning

Organophosphate poisoning is an important cause of acute neurological dysfunction and respiratory distress. Epidemiology Organophosphate poisoning is common, often as a result of suicidal ingestion (acute high-level exposure) or occupational exposure to pesticides (chronic low-level exposure) ...

Nelson syndrome

Nelson syndrome is a rare disorder observed in patients with Cushing disease that have undergone bilateral adrenalectomy. It involves enlargement of an existing adrenocorticotropic hormone-secreting pituitary tumor, typically an adenoma, after surgical resection of the adrenal glands. Epidemio...

Hepatorenal syndrome

Hepatorenal syndrome refers to a form of acute kidney injury caused by changes in renal blood flow regulation due to liver pathology 1. Although the syndrome occurs mainly in cirrhotic livers it has been reported in patients with acute fulminant liver failure as well 1. Epidemiology The incide...

Wellens syndrome

Wellens syndrome (also referred to as LAD coronary T-wave syndrome) refers to an ECG pattern specific for critical stenosis of the proximal left anterior descending (LAD artery +/- resultant myocardial infarction in this territory. The anomalies described occur in patients with recent anginal...

Currarino-Silverman syndrome

Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder. Clinical presentation Patients present with a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centers. Congenital heart diseases have...

Raine syndrome

Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a very rare genetic disorder. Infants with this syndrome present with numerous characteristic craniofacial features as well as cerebral calcifications. Many individuals with this disorder are stillborn or die as neonates 4. ...

GATA2 deficiency

GATA2 deficiency is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphedema. It is a rare cause of pulmonary alveolar proteinosis. Clinical presentation GATA2 deficiency has considerably variable clinical manif...

Doege-Potter syndrome

Doege-Potter syndrome is a paraneoplastic non-islet cell tumor hypoglycemia, secondary to a solitary fibrous tumor, most commonly pulmonary, secreting insulin-like growth factor-2 (IGF-2). It is rare and more often found with higher grade solitary fibrous tumors 1-4.

Benign paroxysmal positional vertigo

Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo. It occurs secondary to change in posture and typically is associated with nystagmus. The etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio...

Phlegmasia cerulea dolens

Phlegmasia cerulea dolens (PCD) is an uncommon complication of deep venous thrombosis, which results from extensive thrombotic occlusion of the major and collateral veins of an extremity (usually the legs). Epidemiology Left leg is more commonly affected than the right 4. Risk factors Risk f...

Osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder. Epidemiology OS-CS is extremel...

Autonomic dysreflexia

Autonomic dysreflexia (AD) is a life-threatening condition prevalent amongst patients with high spinal cord injury (SCI) and may occur any time after injury. It is a syndrome characterized by an exaggerated reflex increase in blood pressure, usually accompanied by bradycardia in response to a st...

Foster Kennedy syndrome

Foster Kennedy syndrome describes the clinical syndrome of unilateral optic atrophy with contralateral papilledema caused by an ipsilateral compressive mass lesion. Clinical presentation The syndrome consists of two cardinal features, in relation to a mass lesion 1,2: ipsilateral optic nerve ...

Apical hypertrophic cardiomyopathy

Apical hypertrophic cardiomyopathy (AHCM or ApHCM), also known as Yamaguchi syndrome, is a rare form of hypertrophic cardiomyopathy which usually involves the apex of the left ventricle, rarely involves the right ventricular apex, or involves both apices. Epidemiology Historically, this condit...

Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterized by early brain overgrowth and body morphogenesis an...

Levator ani syndrome

Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles. Clinical presentation Levator ani syndrome is characterized by recurrent pain, pressure or discomfort in the region of the rectum, sac...

1p36 deletion syndrome

1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1. Epidemiology The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...

Rhupus syndrome

Rhupus syndrome is a term traditionally used to describe patients uncommonly having the coexistence of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA)

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder. Epidemiology The exact prevalence is unknown. Clinical presentation The cardinal features of HANAC syndrome are helpfully described in the name of...

Chromosome 1q21.1 deletion syndrome

Chromosome 1q21.1 deletion syndrome is a condition caused by the deletion of a short portion of the long arm (q) of chromosome 1 at a locus called q21.1. The disorder demonstrates a heterogenous spectrum of manifestations including delayed milestones, learning difficulties, physical anomalies, c...

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