Hypochondroplasia
Medical condition / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Hypochondroplasia?
Summarize this article for a 10 year old
SHOW ALL QUESTIONS
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia[3] and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.[2][4]
Quick Facts Specialty, Symptoms ...
Hypochondroplasia | |
---|---|
Hypochondroplasia is autosomal dominant in inheritance. | |
Specialty | Medical genetics |
Symptoms | Skeletal dysplasia[1] |
Causes | FGFR3 gene mutation[2] |
Diagnostic method | Physical finding, X-ray[3] |
Treatment | Special education, Laminectomy [1] |
Close