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Thanatophoric dysplasia type 2

Disease definition

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

ORPHA:93274

  • Synonym(s):
    • Cloverleaf skull-micromelic bone dysplasia syndrome
    • TD2
    • Thanatophoric dwarfism type 2
    • Thanatophoric dwarfism-cloverleaf skull syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.1
  • OMIM: 156830  187601
  • UMLS: C1300257  C1834928
  • MeSH: -
  • GARD: 1402
  • MedDRA: -

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