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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
General
skeletal dysplasia
Database Correlations
OMIM correlations
References
UniProt :accession P22607