Thursday, April 30, 2015

Young-Madders Syndrome

          Young-Madders Syndrome also known as Pseudotrisomy 13 syndrome or holoprosencephaly-polydactyly syndrome. It’s a genetic disorder caused by defective and duplication of chromosomes. It is named after 2 doctors Dr. I Young and D. Madders of United Kingdom, who in 1987 described this unknown condition while presenting a stillborn male infant in a publication in Journal of Medical Genetics.

It’s main symptoms are

  • Holoprosencephaly: condition in which forebrain of embryo fails to develop into 2 hemispheres
  • Polydactyly (poly – many, dactyly-fingers)

  • Facial malformations
  • Mental retardations
  • Hypoplasia: (hypo-under, plasia-formation) underdevelopment or incomplete development of an organ or tissue.
  • Cleft lip/palate

  • Cardiac lesions and other heart defects.

          Usually this syndrome can be diagnosed pre-natally during sonography mainly due to distinctive features of holoprosencephaly, brain or face malformations, overlapping of bones of the skull, polydatyly, genital deformities etc.

          Cases with severe form of deformities are usually stillborn. This syndrome is caused by some fault in chromosome 13. Protection Status


  1. Very informative.

  2. Interesting and thanks for spreading awareness. Congrats for completing challenge.


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