thanatophoric dysplasia/dwarfism

Epidemiology

• most common neonatal lethal skeletal dysplasia

Genetics

• mutations affecting different functional domains of FGFR3 cause different forms

Clinical manifestations

• affected individuals display features similar to those seen in homozygous achondroplasia
• severe shortening of the limbs
• macrocephaly
• narrow thorax
• short ribs
• in the most common subtype, TD1, femur are curved
• in TD2, straight femurs & cloverleaf skull
• lethal disorder

More general terms

• skeletal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/187600
• OMIM: https://mirror.omim.org/entry/187601