Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:93274

Thanatophoric dysplasia type 2

Also called Cloverleaf skull-micromelic bone dysplasia syndrome, TD2, Thanatophoric dwarfism type 2, Thanatophoric dwarfism-cloverleaf skull syndrome

Body system
Bone diseases
Inheritance pattern
Autosomal dominant, Not applicable
Typical age of onset
Infancy, Neonatal
Estimated prevalence
Unknown (Worldwide)
Rarity class
Unknown

ORPHA:93274 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Macrocephaly
  • Narrow chest
  • Platyspondyly
  • Abnormal metaphysis morphology
  • Brachydactyly
  • Hypotonia