Malformative diseases

Articles

• hydrolethalus syndrome
  25 May 2005

  Autosomal recessive malformative syndrome.
  Synospsis
  Intrauterine growth retardation
  Micrognathia
  Malformed ears
  Low-set ears
  Microphthalmia
  Bifid nose
  Cleft palate
  Lateral or midline cleft lip
  Lower lip cleft
  Broad neck
  Atrioventricular canal
  Ventricular septal defect
  Hypoplastic larynx
  Tracheal stenosis
  Bronchial stenosis
  Defective lobation
  Pulmonary agenesis
  Agenesis of diaphragm
  Omphalocele
  Accessory spleen
  Incomplete bowel (...)

• Myhre syndrome
  30 December 2011

  Definition: Myhre syndrome (MIM.139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.
  Clinical synopsis
  Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac (...)

• Ivemark syndrome
  13 May 2004

  autosomal recessive visceroatrial heterotaxy, asplenia with cardiovascular anomalies, visceral isomerism syndrome. Ent. Nom. Ivemark, 1955.

• Cumming syndrome
  8 March 2005

  Cumming type campomelia; cervical lymphocele with bowed long bones; campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. association

• Feingold syndrome
  18 April 2005

  oculodigitoesophageal syndrome, ODED syndrome

• high forehead
  28 May 2003

  Etiology (example)
  Pyruvate dehydrogenase deficiency

• orofaciodigital syndrome type 2
  21 January 2006

  OFD2, oro-facio-digital syndrome type 2, Mohr syndrome

• Alstrom syndrome
  21 January 2006

  ALMS

• Simpson-Golabi-Behmel syndrome
  10 February 2004

  SGBS, Bulldog syndrome, X-linked dysplasia gigantism syndrome, Golabi-Rosen syndrome, Simpson dysmorphia syndrome

• SC phocomelia syndrome
  19 January 2006

  SC pseudothlidomide syndrome

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