Malformative diseases

Articles

• Goldenhar syndrome
  8 March 2005

  Goldenhar sequence, Goldengar-Gorlin syndrome, hemifacial microsomia, oculaoauriculovertebral dysplasia, OAV dysplasia, facioauriculovertebral sequence, FAV sequence, oculaoauriculovertebral spectrum (OAVS)

• Meckel syndrome
  18 March 2004

  Meckel-Gruber syndrome, dysencephalia splanchnocystica

• Ivemark syndrome
  13 May 2004

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

• trisomy 13
  12 January 2005

  Patau syndrome

• orofaciodigital syndrome type 2
  21 January 2006

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

• Greenberg syndrome
  30 September 2003

  Hydrops-ectopic calcification-"moth-eaten" (HEM), Greenberg skeletal dysplasia, hydrops-ectopic calcification-moth-eaten skeletal dysplasia

• RAPADILINO syndrome
  16 December 2003

  Ent. Nom. 1989, Kaariainen, H.

• Frasier syndrome
  8 April 2004

  Frasier disease

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

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