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