SADDAN

SADDAN is a constitutional disease of the bone of the group of the achondroplasies appearing by an obvious nanism dice the birth. SADDAN is a Acronyme to indicate association:

  • severe Achondroplasie (severe achondroplasia)
  • Delay of development (developmental delay)
  • Acanthosis nigricans (acanthosis nigricans)

Etiology

  • Change of the Gene FGFR3 located at the level of the Locus p16.3 of the Chromosome 4 coding the fibroblast growth Factor receptor .

Transmission

dominant autosomic Transmission

Sources

  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 134934

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