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579 results found

≤11 ribs (differential)

≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including: Down syndrome (trisomy 21) campomelic dysplasia kyphomelic dysplasias asphyxiating thoracic dysplasia (Jeune syndrome) short rib polydactyly syndromes trisomy 18 chromosome 1q21.1 deletion...

18q-deletion syndrome

18q-deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial and dista...

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 5000 live births. It is the most common terminal...

4D syndrome

4D syndrome is a term used to describe a manifestation of syndromic glucagonomas, a type of pancreatic endocrine tumor. D: dermatitis 2 necrolytic migratory erythema - a widespread rash, tending to involve perioral and perigenital regions oral rashes (angular stomatitis, cheilitis) tend to r...

Aarskog syndrome

Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia. Epidemiology Population pre...

Aase-Smith syndrome

Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder. Clinical presentation congenital hypoplastic anemia - fetal anemia triphalangeal thumbs broad thumb abnormal clavicles cleft lip or cleft palate hypoplastic radii hydrocephalus (due to Dandy-Walker anomaly) ...

Abdominal migraine

Abdominal migraine (AM) is a syndrome which presents as recurrent episodes of severe abdominal pain, coupled with vasomotor symptoms, nausea and emesis. Historically it has tended to be a pediatric diagnosis, but is now increasingly seen in adults. It is one of the functional gastrointestinal di...

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.

Accessory navicular syndrome

Accessory navicular syndrome occurs when a type II accessory navicular becomes painful due to movement across the pseudo-joint between the ossicle and the navicular bone. Radiographic features Ultrasound It can be inferred on musculoskeletal ultrasound if a patient's pain is located at a type...

Achondrogenesis

Achondrogenesis refers to a group of rare and extreme skeletal dysplasias. Epidemiology The estimated incidence is 1:40,000 with no recognized gender predilection. Pathology It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. Subtypes T...

Acrocephalosyndactyly

Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by: calvarial anomalies, e.g. craniosynostoses digital anomalies, e.g. syndactyly Classification While there can be some overlap in features, they can be primarily classified into the following maj...

Acrodysostosis

Acrodysostosis is a rare skeletal dysplasia characterized by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, intellectual disability and deafness. Pathology Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to ...

Acute aortic syndrome

Acute aortic syndrome (AAS) describes the presentation of patients with one of a number of life threatening aortic pathologies that give rise to aortic symptoms. The spectrum of these aortic emergencies include: aortic dissection aortic intramural hematoma penetrating atherosclerotic ulcer ...

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...

Acute coronary syndrome

Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are: ST elevation myocardial infarction (STEMI) non-ST elevation myocardial infarction (NSTEMI) unstable an...

Acute respiratory distress syndrome

Acute respiratory distress syndrome (ARDS) is a form of acute lung injury (ALI) and occurs as a result of a severe pulmonary injury that causes alveolar damage heterogeneously throughout the lung. It can either result from a direct pulmonary source or as a response to systemic injury. Pathology...

Acute spinal cord ischemia syndrome

Acute spinal cord ischemia syndrome is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor. Epidemiology Acute spinal cord ischemia syndrome represents only 5-8% of acute myelopathies 4,5 and <1% of all strokes 7. The demographic of affected...

Adams-Oliver syndrome

The Adams-Oliver syndrome (AOS) is a rare disorder characterized by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects. Associations polymicrogyria: can be associated with a variant of Adams-Oliver syndrome 3

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...

Adie syndrome

Adie syndrome, also known as Holmes-Adie syndrome, is a rare neurological disorder. Epidemiology Adie syndrome is a rare condition which is most commonly seen in young females in their fourth decade of life 2,3. Clinical presentation Patients most commonly present with a classic triad of: d...

Agraphia

Agraphia represents acquired impairments of writing ability secondary to damage or dysfunction of the central nervous system. Impairments caused solely by motor dysfunction (e.g. hand paresis or tremor) are not considered to be forms of agraphia 1. Clinical presentation Agraphia is rarely an i...

Aicardi-Goutières syndrome

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

Aicardi syndrome

Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases). Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after J...

Alagille syndrome

Alagille syndrome (AGS) is a congenital genetic multi-system disorder. Clinical presentation Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis. Genetics Alagille syndrome is inherited in an autosomal fashion with...

Alexia

Alexia (or acquired dyslexia) is a neurological term refers to an acquired impairment of reading resulting from damage of critical brain areas. Clinical presentation Alexia can manifest itself as an impairment of oral reading and reading comprehension alike and can occur in combination with va...

Allgrove syndrome

Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings: achalasia alacrima ACTH insensitivity

All-trans retinoic acid syndrome

All-trans retinoic acid (ATRA) syndrome, more recently known as differentiation syndrome (DS) 8, is a condition that can occur with patients with acute promyelocytic leukemia who are on therapeutic all-trans-retinoic acid (ATRA). All-trans-retinoic acid (ATRA) is a normal constituent of plasma ...

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...

Alpha thalassemia/intellectual disability syndrome X-linked (ATRX) gene (tumor marker)

Alpha-thalassemia/intellectual disability syndrome X-linked (ATRX) gene is an important genomic marker of gliomas and is either intact (ATRX wild-type) or mutated (ATRX-mutant) and is correlated with other important genomic markers including IDH, 1p19q codeletion and p53 expression 1,2. ATRX a...

Alport syndrome

Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions. Clinical presentation hematuria sensorineural hearing loss: typically high frequency 2 ocular abnormalities anterior lenticonus: most common ...

Amelia

Amelia refers to a skeletal dysplasia characterized by the complete absence of upper or lower extremity or all four limbs. It may be associated with other congenital anomalies, i.e. omphalocele and diaphragmatic hernias 3. Epidemiology Amelia is a very rare congenital anomaly with an incidence...

Amniotic band syndrome

Amniotic band syndrome (ABS) comprises of a wide spectrum of abnormalities, all of which result from entrapment of various fetal body parts in a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a unique deficit. Epidemiology The phenomen...

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS), also known as the testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings. Epidemiology The incidence may vary depending on whether it i...

Anterior ankle impingement syndrome

Anterior ankle impingement (AAI) syndrome is the result of chronic repetitive trauma with impingement of the anterior tibia against the talus. Clinical presentation Clinical features of anterior ankle impingement syndrome include painful and limited dorsiflexion and anterior joint line swellin...

Anterior choroidal artery syndrome

Anterior choroidal artery (AchA) syndrome is a rare entity characterized by the triad of hemiplegia, hemianaesthesia and contralateral hemianopia as a result of cerebral infarction in the anterior choroidal artery territory. The syndrome may also be associated with neuropsychological disorders,...

Anterior resection syndrome

Anterior resection syndrome refers to wide spectrum of symptoms which develop post-sphincter preserving rectal resection for rectal cancer. Pelvic radiotherapy is a known risk factor to develop anterior resection syndrome. Clinical presentation Symptoms include but are not limited to: increa...

Anti-GQ1b IgG antibody syndrome

Anti-GQ1b IgG antibody syndrome refers to a number of conditions which share autoantibodies to the ganglioside complex GQ1b, and have overlapping clinical spectrums. The conditions believed to represent various clinical manifestations of a common immunological disorder include 1: acute ophth...

Antiphospholipid syndrome

Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients who have circulating antiphospholipid antibodies. Clinical presentation Antiphospholipid syndrome is characterized by venou...

Antiphospholipid syndrome (pulmonary manifestations)

Pulmonary involvement in antiphospholipid syndrome is one of the most frequent arterial complications of antiphospholipid syndrome. Pathology It is essentially related to pulmonary arterial microthrombosis and may cause a wide spectrum of conditions, which include 3-5: pulmonary thromboembol...

Anti-synthetase syndrome

Anti-synthetase syndrome (ASS) is a systemic, inflammatory, autoimmune disease that is characterized by inflammatory myositis, polyarthritis associated with interstitial lung disease (ILD) and anti-synthetase autoantibodies. Pathology ASS can result from autoantibodies to eight of the aminoacy...

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...

Apert syndrome

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations. Epidemiology The estimated incidence is 1 case per 65-80,000 pregnancies. Risk factors increased paternal age has been proposed 6 Associations CNS ...

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...

Asherman syndrome

Asherman syndrome, also known as uterine synechiae, is a condition characterized by the formation of intrauterine adhesions, which are usually sequela from injury to the endometrium, and is often associated with infertility. Epidemiology There is a tendency for the condition to develop soon af...

Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...

Asplenia syndrome

Asplenia syndrome, also known as right isomerism or Ivemark syndrome, is a type of heterotaxy syndrome. Epidemiology There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates 4. Clinical presentation In contrast to polysplenia syndrome, most patients die bef...

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies. Radiographic features markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound. inter...

Ataxia telangiectasia

Ataxia-telangiectasia is a rare multisystem disorder that carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency. On brain imaging, it usually demonstrate...

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...

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...

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...

Babinski-Nageotte syndrome

Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome) 1,2. Terminology In many texts this eponymous syndrome is incorrectly used synonymously with hemim...

Bálint syndrome

Bálint syndrome is characterized by: simultanagnosia (inability to perceive more than one object at a time) optic ataxia oculomotor apraxia Pathology It typically results from damage to the parieto-occipital regions, and has been associated with 1-3: corticobasal degeneration posterior co...

Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome. There are no formal diagnostic criteria for this disease, but characterist...

Bannayan-Zonana syndrome

Bannayan-Zonana syndrome, also known as Bannayan-Riley-Ruvalcaba syndrome, is a rare hamartomatous disorder. Epidemiology Male predominance is reported 1. Clinical presentation Bannayan-Zonana syndrome is characterized by: macrocephaly multiple lipomas hemangiomas 1 Other findings that...

Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa intellectual disability rena...

Barth syndrome

Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy. Epidemiology Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births. Clinical presentation It is characte...

Bartter syndrome

Bartter syndrome is a rare inherited renal disorder. Pathology Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with: hypokalemia metabolic alkalosis hypotension/normotension elevated plasma renin elevate aldosterone antenatal polyhydramnios Classifi...

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterized by a unique set of features that can consist of: macroglossia: most common clinical finding 4 otic dysplasia ref omphalocoele localized gigantism / macrosomia hemihypertrophy cardiac anomalies pancreatic i...

Benedikt syndrome

Benedikt syndrome, or paramedian midbrain syndrome, is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve and the red nucleus. Clinical presentation ipsilateral CN III palsy 1-4 crossed hemiataxia 1-4 crossed choreoathetosis 1-4 Pathology It is usually caused by...

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...

Bertolotti syndrome

Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain. Although it may be a consideration in younger patients, the entity is considered controversial and has been both supported and disputed since the Italian radiologist Mario Bertolotti (187...

Big black brain

Big black brain is a radiologic pattern unique to infants and toddlers in the context of traumatic brain injury, most frequently due to abusive head trauma. The CT presentation is a parenchymal hypodensity and uniform loss of gray-white differentiation in the entire hemisphere, associated with...

Bile sump syndrome

Bile sump syndrome refers to a complication following a side-to-side choledochoduodenostomy. Epidemiology This complication occurs in ~1% of patients following a side-to-side choledochoduodenostomy. Clinical presentation Recurrent abdominal pain, cholangitis, pancreatitis, or biliary obstr...

Bing-Neel syndrome

Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia where there is malignant lymphocyte infiltration into the central nervous system (CNS). Epidemiology The exact incidence is unknown, however, in one study of patients with Waldenström macroglobul...

Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome or folliculin gene-associated syndrome is a genetic multisystemic disease mainly characterized by: multiple lung cysts and secondary spontaneous pneumothoraces multiple bilateral renal tumors (particularly chromophobe renal cell cancer and oncocytoma) cutaneous manifes...

Blueberry muffin syndrome

Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis. The syndrome was originally described in congenital...

Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome (BRBNS) or Bean syndrome, is a rare sporadic syndrome characterized by multifocal venous anomalies. Patients often have multiple soft blue skin lesions (blueberry muffin syndrome) associated with multiple bowel venous malformations, which could lead to lower gastr...

Bogorad syndrome

Bogorad syndrome also known as the syndrome of crocodile tears, is characterized by residual facial paralysis with profuse lacrimation during eating. This phenomenon is also known as paroxysmal lacrimation or the gustolachrymal reflex. It is caused by a misdirection of the regenerating autonomic...

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...

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 ...

Bouveret syndrome

Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus. Clinical presentation Bouveret syndrome occurs most commonly in elderly women. The presenting...

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...

Branchio-otic syndrome

Branchio-otic syndrome (also known as BOS, BOS1, BO syndrome 1 and branchiootic dysplasia) is a rare autosomal dominant disease. It manifests as abnormalities of the second branchial arch, with predominant abnormalities of the ear. No renal disease is seen, in contradistinction to its close name...

Branchio-oto-renal dysplasia

Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterized by: otic malformations can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment preauricular pits branchial fistulae and branchial cleft cysts renal malfo...

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-Séquard syndrome

Brown-Séquard syndrome, also known as hemicord syndrome, is the result of damage to, or impairment of, the left or right side of the spinal cord. It is characterized by a characteristic pattern of motor and sensory deficits that are determined by the decussation pattern of various white matter t...

Brown syndrome (orbit)

The Brown syndrome refers to an inability of a patient to perform an upward gaze while the eye is adducted due to an abnormality of the superior oblique tendon sheath complex. History and etymology It was first described by Allan Brown in 1950 1. See also Brown-Sequard syndrome

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...

Bruns syndrome

Bruns syndrome occurs in patients with an obstructing intraventricular mass.It consists of abrupt paroxysms of: severe headache vertigo vomiting The symptoms are characteristically exacerbated with sudden movements of the head. Pathology There are two main theories as to the pathogenesis o...

Budd-Chiari syndrome

Budd-Chiari syndrome, also known as hepatic venous outflow obstruction (HVOO), refers to the clinical picture that occurs when there is partial or complete obstruction of the hepatic veins. It is characterized on imaging by ascites, caudate hypertrophy, peripheral atrophy, and prominent collater...

Buried bumper syndrome

Buried bumper syndrome (BBS) is a rare but important complication in patients with a percutaneous gastrostomy tube, occurring by migration of the internal bumper along its track. The tube may get lodged anywhere between the gastric wall and the skin and lead to life-threatening complications inc...

Buschke-Ollendorff syndrome

Buschke-Ollendorff syndrome (BOS), also known as disseminated dermatofibrosis lenticularis 2, comprises of osteopoikilosis associated with disseminated connective tissue and cutaneous yellowish nevi, predominantly on the extremities and trunk 1. Recent genetic work has linked this syndrome to ...

Caffey disease

Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora ...

Campomelic dwarfism

Campomelic dwarfism, also known as campomelic dysplasia, is a rare form of skeletal dysplasia. Epidemiology Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births. Associations genital malformations: may be present in ~66% of patients 6 Clinical presentation Diagnos...

Camptocormia

Camptocormia (bent spine syndrome or cyphose hystérique) is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when laying down, and is due to isolated atrophy of the paraspinal muscles. Epidemiology In a small case series (n=16), ...

Camptodactyly arthropathy coxa vara pericarditis syndrome

Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized by congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy coxa vara deformity or other dysplasia associated with progressive hip disease pericardit...

Camurati-Engelmann disease

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course. Clinical presentation Common symptoms include extremity pain, muscle weakness, cranial nerve impairment a...

Carcinoid syndrome

Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion. Epidemiology Occurs equally between the sexes, most commonly in the 40-70 year age group 3. Clinical presentation Diarrhea is the most common and earliest symptom but others ...

Carney complex

Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterized by 1-4: cardiac myxoma often multiple seen in two-thirds of patients with Carney complex skin pigmentation (blue nevi): especially of the face, trunk, lips, and sclera M...

Carney-Stratakis syndrome

Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastric stromal sarcoma. Terminology It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney complex. Histor...

Carney triad

Carney triad is a rare syndrome defined by the coexistence of three tumors: extra-adrenal paraganglioma (e.g. spinal paraganglioma) initially, only functioning extra-adrenal paragangliomas were included, but subsequent work includes non-functioning extra-adrenal paragangliomas 1 gastric gastr...

Carotidynia

Carotidynia, also known as Fay syndrome, is a rare syndrome characterized by neck pain in the region of the carotid bifurcation. It was classified by the International Headache Society (IHS) in 1988 as an idiopathic neck pain syndrome associated with tenderness over the carotid bifurcation with...

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