Rare Zebra

Rare disease search prototype built on Orphanet data

← Back to search

ORPHA:1860

Thanatophoric dysplasia type 1

Also called TD1, Thanatophoric dwarfism type 1

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

ORPHA:1860 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Macrocephaly
  • Narrow chest
  • Platyspondyly
  • Abnormal metaphysis morphology
  • Hypoplastic ilia
  • Brachydactyly