hypochondroplasia
Sign in to saveHypochondroplasia (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 and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.
Key facts
- Medical condition (new).name
- Hypochondroplasia
- Medical condition (new).image
- File:Autosomal dominant - en.svg
- Medical condition (new).caption
- Hypochondroplasia is autosomal dominant in inheritance.
- Medical condition (new).symptoms
- Skeletal dysplasia
- Medical condition (new).causes
- FGFR3 gene mutation
- Medical condition (new).diagnosis
- Physical finding, X-ray
- Medical condition (new).treatment
- Special education, Laminectomy
via Wikipedia infobox
Research
350 papers- Hypochondroplasia.1993
- Hypochondroplasia.Clinical orthopaedics and related research · 1975
- Vosoritide treatment for children with hypochondroplasia: a phase 2 trial.EClinicalMedicine · 2024
- Growth reference charts for children with hypochondroplasia.American journal of medical genetics. Part A · 2024
- Hypochondroplasia.American journal of diseases of children (1960) · 1971
via PubMed
Wikidata facts
- Subclass of
- disease
Show 5 more facts
- health specialty
- medical genetics
- exact match
- www.orpha.net/ORDO/Orphanet_429
- NCI Thesaurus ID
- C118697
- genetic association
- FGFR3
- on focus list of Wikimedia project
- WikiProject Medicine
via Wikidata · CC0
~2 min read
Encyclopedic overview
10 sectionsContents
- Signs and symptoms
- Cause
- Pathophysiology
- Diagnosis
- Treatment
- Prognosis
- See also
- References
- Further reading
- External links
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 and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.
==Signs and symptoms== Individuals affected by this disorder appear normal at birth. As the infant grows, however, their arms and legs do not develop properly, and their body becomes thicker and shorter than normal. The following are characteristics consistent with this condition: Brachydactyly Short stature Micromelia Skeletal dysplasia Abnormality of femur
Excerpted from Wikipedia’s “hypochondroplasia” article, available under the CC BY-SA 4.0 licence.