Disease

Articles

• 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 (...)

• uncombable hair syndrome
  23 November 2004

  pili trianguli et canaliculi

• Tay-Sachs disease
  18 June 2005

  Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
  Etiology
  Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
  Tay-Sachs Disease (...)

• Joubert syndrome
  22 September 2003

  Joubert’s syndrome, cerebello-oculo-renal syndromes (CORs), Joubert syndrome

• Kaposi sarcoma
  12 December 2003

  Definition: Kaposi sarcoma is a multifocal HHV-8-driven vascular proliferation which does not show conventional features of malignancy—in particular, it may regress spontaneously.
  Images
  Kaposi sarcoma
  https://twitter.com/bunn_belinda/status/796890548493815808
  https://twitter.com/phmckee1948/status/845560382362144768
  https://twitter.com/phmckee1948/status/865860247172395009
  polypoid lesion : pyogenic granuloma-like Kaposi sarcoma (H&E, HHV-8). (...)

• lissencephaly type 1
  2 February 2006

  LIS1, lissencephaly type I

• amniotic band sequence
  10 January 2005

  ABS, congenital constriction band sequence (CCBS), amniotic band syndrome, amniotic rupture sequence, amniotic membrane sequence

• parapsoriasis
  15 June 2011

  Digital slides
  UI: - Parapsoriasis
  See also
  cutaneous diseases
  cutaneous lesions

• type 1 diabetes
  25 September 2003

  type I diabetes

• ring chromosome 4
  19 April 2005

  r(4)(p16—>q22.3) , deleted ring chromosome 4

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