hypochondroplasia

Genetics

• autosomal dominant
• associated with defects in FGFR3

Clinical manifestations

• disproportionate short stature
• resembles achondroplasia, but with a less severe phenotype

More general terms

• skeletal dysplasia

Additional terms

• achondroplasia

Database

• OMIM: https://mirror.omim.org/entry/146000