Lemierre syndrome Lemierre syndrome is one of the rare diseases This is an infectious disease affecting the oropharyngeal area Most common in young adults and immunocompetent adolescents Most potentially a lethal condition Incidence How common is Lemierre syndrome Approximately affects 0.6-2.1 per million The incidence of Lemierre syndrome has significantly dropped after the advent of …
Graysons Syndrome (Grayson Wilbrandt corneal dystrophy) Graysons Syndrome is an extremely rare disease. This syndrome also known as Grayson Wilbrandt corneal dystrophy (GWCD) is one of the rarest form of an eye disease that is corneal dystrophy. This GWCD is a mitochondrial condition The disease results from deficiency of a substance in the body called …
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4 Interesting Facts of Kabuki syndrome Congenital syndrome characterized by growth deficiency, mental disability, and skeletal abnormalities Specific abnormalities include persistent fetal fingertip pads and facial dysmorphology (prominent cupped dysplastic ears; arched, broad eyebrows with sparse lateral third; short columella with depressed nasal tip; elongated palpebral fissures with eversion of the lateral third of the …
4 Interesting Facts of Smith Magenis syndrome Congenital syndrome characterized by: Developmental delay, cognitive impairment, and distinctive neurobehavioral abnormalities Notable dysmorphic facial features, including midface retrusion; short, upturned nose; deep-set, close-spaced eyes with upslanting palpebral fissures; brachycephaly; broad forehead; and down-turned, tent-shaped upper vermilion lip border Dysmorphic facies, mild mental disability, engaging personalities, and short …
7 Interesting Facts of DiGeorge syndrome Congenital syndrome characterized by developmental defects in the thymus, parathyroids, and great vessels (fourth branchial arch, third and fourth branchial pouch development) Intellectual disability and dysmorphic facies are features of both Williams and DiGeorge syndromes Distinguishing features of DiGeorge syndrome include hypoparathyroidism, frequent cleft lip/palate, craniofacial defects, hypocalcemia, and …
7 Interesting Facts of Noonan syndrome Noonan syndrome is a congenital syndrome characterized by variable phenotype that may include: Dysmorphic facial features Most prominent in infants and become less dramatic with age; distinctive features may include down-slanting palpebral fissures; ptosis; hypertelorism; and low-set, posteriorly rotated ears Sternal deformity and webbed neck Congenital heart disease (eg, …
4 Interesting Facts of Neurofibromatosis Type 1 Autosomal dominant disorder caused by heterozygous loss of function mutation or deletion in NF1 gene; about 50% of cases are sporadic owing to de novo mutations Disease is characterized by café au lait spots, axillary and/or inguinal freckling, Lisch nodules (hematomas of iris), fibromatous skin tumors, short stature, and …