ORPHA:2655
Thanatophoric dysplasia
Also called TD
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant, Not applicable
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:2655 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Macrocephaly
- Narrow chest
- Platyspondyly
- Abnormal metaphysis morphology
- Hypotonia
- Redundant skin