Items tagged “syndrome”

274 results found
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Dubowitz syndrome

Dubowitz syndrome (DS) is a rare genetic disorder with a wide clinical spectrum which includes: intrauterine growth restriction (IUGR) postnatal growth restriction microcephaly moderate intellectual disability  characteristic facial anomalies  telecanthus epicanthic folds blepharophimos...
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SADDAN syndrome

SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies. Pathology Genetics The syndrome results from a mutation in ...
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Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system. Epidemiology Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...
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Tarsal tunnel syndrome

Tarsal tunnel syndrome refers to an entrapment neuropathy (tunnel syndrome) of the (posterior) tibial nerve or of its branches within the tarsal tunnel. This condition is analogous to carpal tunnel syndrome. Clinical presentation The most common symptoms are pain and paresthesia in the toes, s...
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Thalidomide embryopathy

Thalidomide embryopathy refers to a syndrome resulting from in utero exposure to thalidomide, and is characterized by multiple fetal anomalies. Fetal exposure to thalidomide occurred primarily from 1957 to 1961, when it was used as a treatment for nausea in pregnant women.  Epidemiology  Expos...
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Marshall-Smith syndrome

Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases, however, have a wider clinical spectrum. Clinical presentation general fetal macrosomia failure to thrive skelet...
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Weaver syndrome

Weaver syndrome (WS) is a rare congenital disorder. Clinical spectrum increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead hypertelorism long philtrum micrognathia large ears h...
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Cenani-Lenz syndactyly

Cenani-Lenz syndactyly (CLS) is a very syndrome primarily characterized by: syndactyly/oligodactly: syndactyly is often complete and gives a spoon hand type appearance radio-ulnar synostoses Pathology Genetics It carries an autosomal recessive inheritance. Etymology It was first described...
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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...
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Bickers Adams Edwards syndrome

Bickers Adams Edwards syndrome is a rare x-linked disorder with profound intellectual disability, adducted thumb and large head which is comprising of a constellation of congenital CNS anomalies including:  congenital aqueductal stenosis corpus callosum agenesis absence of the medullary pyram...
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Branchio-oto-renal dysplasia

Branchio-oto-renal (BOR) dysplasia, syndrome, or spectrum disorder is a rare syndromic disorder characterized by cervical branchial apparatus anomalies, ear malformations, and renal anomalies. If there are no renal anomalies, then it is more likely to be branchiootic dysplasia. Pathology When ...
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CHILD syndrome

CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome comprises: Ch: congenital hemidysplasia I: ichthyosiform erythroderma develops at or shortly after birth unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk 2 hair ...
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Robinow syndrome

Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms. Clinical spectrum The syndrome can affect several systems, including: mesomelic limb shortening: mesomelia hemivertebrae characteristic facies anomalies fetal facies hypertelorism 3 frontal bossin...
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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. It may be accompanied by orofacial and cardiac malformations 6. Associations polymicrogyria: can be associated with a...
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Sweet syndrome

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include: fever neutrophilia tender erythematous skin lesions (papules, nodules and plaques) a diffuse infiltrate consisting predom...
Case

SMART syndrome

 Diagnosis probable
Dr Daryl Bergen
Published 16 Dec 2011
45% complete
MRI
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Immune reconstitution inflammatory syndrome

Immune reconstitution inflammatory syndrome (IRIS) is paradoxical deterioration of a pre-existing illness following abrupt improvement in an individual's immune function. It is classically seen in HIV/AIDS patients following initiation of highly active antiretroviral therapy (HAART). Increasingl...
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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...
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Wunderlich syndrome

Wunderlich syndrome is a rare condition in which spontaneous non-traumatic renal hemorrhage occurs into the subcapsular and perirenal spaces. Clinical presentation Wunderlich syndrome is clinically characterized by Lenk's triad: acute flank pain flank mass hypovolemic shock ​Mnemonic F: f...
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SHORT syndrome

SHORT syndrome refers to an acronym which primarily comprises of the following features: S: short stature H: hyperextensibility of joints and/or inguinal hernia O: ocular depression R: Rieger anomaly T: teething delay In addition to these there can be numerous associated minor features whi...