FGFR3-related chondrodysplasia
Autozomálně dominantní · Achondroplasia, the most common form, occurs in about 1 in 15,000 to 30,000 births.
Skeletal dysplasias caused by gain-of-function FGFR3 variants, most of which arise new (de novo) rather than being inherited from a parent; nearly all achondroplasia is caused by a single variant, p.Gly380Arg.
Co se diagnózou změní
Specialist follow-up monitors for complications such as narrowing at the base of the skull and spine, and vosoritide is approved to improve growth in children with achondroplasia.
Analyzované geny
Zahrnuje 10 příbuzných podtypů ↓Skrýt podtypy ↑
- achondroplasia
- camptodactyly-tall stature-scoliosis-hearing loss syndrome
- hypochondroplasia
- Kozlowski Warren Fisher syndrome
- micromelic bone dysplasia with cloverleaf skull
- severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- thanatophoric dysplasia
- thanatophoric dysplasia type 1
- thanatophoric dysplasia type 2
- thanatophoric dysplasia, Glasgow variant
