Hypochondroplasia - Wikipedia
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia [3] and a head that appears large in comparison
Hypochondroplasia - Johns Hopkins Medicine
Hypochondroplasia is a genetic disorder that may occur on its own or be autosomal dominant, passed on through a dominant gene from one parent. There is a 50 percent chance of passing it on to a child. In hypochondroplasia, the mutation results in …
Hypochondroplasia Dwarfism: Symptoms, Causes & Outlook - Cleveland Clinic
Hypochondroplasia is a type of skeletal dysplasia or a condition that affects cartilage. Cartilage is connective tissue that protects your bones. It results in short-limbed dwarfism. For hypochondroplasia, a genetic change prevents cartilage from turning into bone (ossification) in the long bones in your arms and legs.
Hypochondroplasia: MedlinePlus Genetics
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs.
Hypochondroplasia - Symptoms, Causes, Treatment | NORD
2007年9月17日 · Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (short-limbed dwarfism). Short stature often is not recognized until early to mid childhood or, in some cases, as late as adulthood.
Hypochondroplasia - GeneReviews® - NCBI Bookshelf
1999年7月15日 · Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly.
Hypochondroplasia | About the Disease | GARD - Genetic and …
Hypochondroplasia is caused by genetic changes in the FGFR3 gene and is inherited in an autosomal dominant fashion. Hypochondroplasia is a form of skeletal disease characterized by very short stature. Hypochondroplasia is similar to …
Hypochondroplasia Causes & Symptoms - Nemours
What Causes Hypochondroplasia? Hypochondroplasia is caused by a mutation (gene change) in the fibroblast growth factor receptor-3 (FGFR3) gene. Typically, the FGFR-3 protein functions in a signaling pathway to slow linear growth in the growth plates of the long bones.
Hypochondroplasia | Rady Children's Hospital - rchsd.org
What Causes Hypochondroplasia? Hypochondroplasia usually happens because of a gene mutation (change). It makes bones grow slower and end up shorter than they typically would be. Sometimes no gene change is found even though someone has the signs and symptoms of hypochondroplasia.
Hypochondroplasia – Kidshealth | Akron Children's
Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. Children growing up with hypochondroplasia (hi-po-kon-dro-PLAY-zhuh) can live long, productive lives. Treatment can help with related problems, and new research offers hope for even better treatments.