Cornelia de Lange syndrome Cornelia de Lange syndrome (CdLS) is a rare disease This condition is a multisystem disorder How common is Cornelia de Lange syndrome Cornelia de Lange syndrome is most common at birth. Males and females are affected equally. As per the current medical literature, more than 400 cases been reported, with the …
Mayer Rokitansky Kuster Hauser syndrome This condition is one of the rare disease Mayer Rokitansky Kuster Hauser syndrome is a spectrum of Mullerian duct anomalies Features of Mayer Rokitansky Kuster Hauser syndrome This disease is characterized by congenital aplasia of upper 2/3 of the vagina and the uterus. Classification of MRKH syndrome This disease classified …
Feingold syndrome This is a rare genetic condition A congenital malformation syndrome Features of Feingold syndrome This disease is characterized by the below features Mild learning deficits short stature Short palpebral fissures microcephaly numerous digital anomalies like brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs How common is Feingold syndrome <1 / 1000000 …
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 …