Disease

Articles

• multiple acyl-CoA dehydrogenation deficiency
  18 March 2005

  MADD, glutaric aciduria type 2

• Kawasaki disease
  16 December 2005

  mucocutaneous lymph node syndrome, MCLS

• syphilis
  18 October 2005

  Definition: Treponema pallidum subspecies pallidum is the microaerophilic spirochete that causes syphilis, a chronic venereal disease with multiple clinical presentations.
  Images
  Primary syphilis - Chancre
  https://twitter.com/JHW806/status/733298742502129666
  Secondary syphilis: psoriasiform pattern + lichenoid infiltrate with histiocytes great clue. Plasma cells ++
  https://twitter.com/JRamirezMD/status/782747788907991040
  Secondary syphilis: "condyloma" appearance. Dense plasma (...)

• X-linked cleft palate with ankyloglossia
  15 October 2007

  XCP

• Noonan syndrome
  17 November 2003

  Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births.
  The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated (...)

• MUTYH-associated polyposis
  5 June 2009

  MAP; MYH-associated polyposis
  Definition: MUTYH-associated polyposis (MAP) is a recessively inherited disorder which predisposes biallelic carriers for a high risk of polyposis and colorectal carcinoma (MAP-CRC).
  This recently recognized type of adenomatous polyposis was first documented in a Welsh kindred in which three siblings had multiple colorectal adenomas and carcinomas but lacked a germline APC mutation.
  MUTYH-associated polyposis (MAP) may be difficult to distinguish from (...)

• Fryns syndrome
  17 May 2004

  variable multiple congenital anomaly syndrome, MCA syndrome

• cartilage-hair hypoplasia
  9 February 2005

  Definition: Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by short-limbed skeletal dysplasia.
  The skeletal dysplasia cartilage-hair hypoplasia syndrome (CHH) combines metaphyseal dysplasia with short limb dwarfism, fine, sparse and blond hair, transient macrocytic anaemia and immunodeficiency. Hirschsprung disease is associated in approximately 10% of the cases.
  Some patients also have defects in cell-mediated immunity and antibody production.
  It is (...)

• mixed gonadal dysgenesis
  22 December 2005

  asymmetric gonadal dysgenesis; 46,XY disorders of sex development

• Fukuyama congenital muscular dystrophy
  16 October 2003

  Fukuyama’s congenital muscular dystrophy, Fukuyama disease

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 1050