Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome is an autosomal dominant genetic disorder due to FLCN gene mutation, typically affecting adults in their mid-40s, characterised...
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Alagille Syndrome
Alagille syndrome is a rare autosomal dominant genetic disorder affecting the liver, heart, and other systems of the body. The... -
Kartagener Syndrome
Kartagener syndrome (KS), also known as immotile cilia syndrome, is a rare, autosomal recessive disorder characterised by the triad of... -
Hereditary Haemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia, HHT, Osler-Weber-Rendu syndrome, arteriovenous malformations, AVM -
McCune-Albright Syndrome
McCune-Albright Syndrome (MAS) is a sporadic, postzygotic, mosaic disorder characterised by the clinical triad of fibrous dysplasia of bone (polyostotic... -
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant genetic disorder leading to the decreased production of alpha-1 antitrypsin (AAT), a... -
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth syndrome that manifests with physical overgrowth, organomegaly, and an increased risk of embryonal... -
Gorlin Syndrome
Gorlin syndrome is a rare, autosomal dominant genodermatosis due to PTCH1 gene mutation characterised by multiple basal cell carcinomas, odontogenic... -
Turner Syndrome
Turner Syndrome is hypogonadism in phenotypica females due to partial or complete absence of one X chromosome, leading to short... -
Cystic Fibrosis
Cystic fibrosis is usually seen in Caucasians in early childhood, typified by an autosomal recessive delta 508 mutations in the... -
Down Syndrome
Down syndrome, typically caused by a meiotic nondisjunction event resulting in trisomy 21, characteristically presents with intellectual disability, characteristic facial...