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