Items tagged “syndrome”
259 results found
Article
Solitary median maxillary central incisor
Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation (variant) of holoprosencephaly (HPE).
Epidemiology
It is estimated to occur in 1:50,000 live births.
Pathology
It is a complex disorder consisting of multiple, mainly...
Article
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...
Article
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 anomalies includes craniosynostosis 2, brain and cutaneous anomalies.
Pathology
Genetics
Th...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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 ...
Article
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 ...
Article
Robinow syndrome
Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.
Terminology
Fetal face syndrome and Robinow-Silverman syndrome are the other synonyms for this genetic disorder. Formerly it was known as costovertebral segmentation defect with mesomelia 8.
Epidemiolo...
Article
Adams-Oliver syndrome
Adams-Oliver syndrome 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.
Pathology
Associations
polymicrogyria: may be associated with ...
Article
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
Published
16 Dec 2011
45% complete
MRI
Article
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 antiretroviral therapy (ART). Increasingly, however, it i...
Article
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...
Article
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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