Hypochondroplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Hypochondroplasia | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Hypochondroplasia is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = Short stature, [[disproportionate dwarfism]], short arms and legs, broad hands and feet | |||
| onset = [[Childhood]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[FGFR3]] gene | |||
| risks = | |||
| diagnosis = [[Clinical evaluation]], [[genetic testing]] | |||
| differential = [[Achondroplasia]], [[hypopituitarism]], [[Turner syndrome]] | |||
| treatment = [[Growth hormone therapy]], [[orthopedic surgery]] | |||
| medication = | |||
| frequency = 1 in 15,000 to 40,000 people | |||
| deaths = | |||
}} | |||
[[File:Spinal_Stenosis.png|thumb|left]] | |||
'''Hypochondroplasia''' is a form of [[short stature]] that is characterized by a smaller than average body size. The condition is caused by mutations in the [[FGFR3 gene]], which is responsible for the development and maintenance of bone and brain tissue. | '''Hypochondroplasia''' is a form of [[short stature]] that is characterized by a smaller than average body size. The condition is caused by mutations in the [[FGFR3 gene]], which is responsible for the development and maintenance of bone and brain tissue. | ||
== Symptoms == | == Symptoms == | ||
The most common symptom of hypochondroplasia is short stature. Other symptoms may include: | The most common symptom of hypochondroplasia is short stature. Other symptoms may include: | ||
* [[Limited range of motion]] in the elbows | * [[Limited range of motion]] in the elbows | ||
* [[Bowed legs]] | * [[Bowed legs]] | ||
| Line 10: | Line 28: | ||
* [[Short fingers]] | * [[Short fingers]] | ||
* [[Broad hands]] | * [[Broad hands]] | ||
== Causes == | == Causes == | ||
Hypochondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in the FGFR3 gene cause the protein to be overactive, which interferes with normal bone growth and leads to the short stature seen in hypochondroplasia. | Hypochondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in the FGFR3 gene cause the protein to be overactive, which interferes with normal bone growth and leads to the short stature seen in hypochondroplasia. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of hypochondroplasia is usually based on physical features. Genetic testing can confirm a diagnosis. | Diagnosis of hypochondroplasia is usually based on physical features. Genetic testing can confirm a diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for hypochondroplasia. Treatment is focused on managing symptoms and may include: | There is currently no cure for hypochondroplasia. Treatment is focused on managing symptoms and may include: | ||
* [[Physical therapy]] to improve range of motion | * [[Physical therapy]] to improve range of motion | ||
* [[Surgery]] to correct bowed legs | * [[Surgery]] to correct bowed legs | ||
* [[Growth hormone therapy]] to increase height | * [[Growth hormone therapy]] to increase height | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with hypochondroplasia is generally good. Most people with the condition have a normal lifespan and are able to lead productive lives. | The prognosis for individuals with hypochondroplasia is generally good. Most people with the condition have a normal lifespan and are able to lead productive lives. | ||
== See also == | == See also == | ||
* [[Achondroplasia]] | * [[Achondroplasia]] | ||
* [[Dwarfism]] | * [[Dwarfism]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Bone disorders]] | * [[Bone disorders]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Bone disorders]] | [[Category:Bone disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:08, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Hypochondroplasia | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Short stature, disproportionate dwarfism, short arms and legs, broad hands and feet |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the FGFR3 gene |
| Risks | |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Achondroplasia, hypopituitarism, Turner syndrome |
| Prevention | N/A |
| Treatment | Growth hormone therapy, orthopedic surgery |
| Medication | |
| Prognosis | N/A |
| Frequency | 1 in 15,000 to 40,000 people |
| Deaths | |
Hypochondroplasia is a form of short stature that is characterized by a smaller than average body size. The condition is caused by mutations in the FGFR3 gene, which is responsible for the development and maintenance of bone and brain tissue.
Symptoms[edit]
The most common symptom of hypochondroplasia is short stature. Other symptoms may include:
- Limited range of motion in the elbows
- Bowed legs
- Large head with a prominent forehead
- Short fingers
- Broad hands
Causes[edit]
Hypochondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in the FGFR3 gene cause the protein to be overactive, which interferes with normal bone growth and leads to the short stature seen in hypochondroplasia.
Diagnosis[edit]
Diagnosis of hypochondroplasia is usually based on physical features. Genetic testing can confirm a diagnosis.
Treatment[edit]
There is currently no cure for hypochondroplasia. Treatment is focused on managing symptoms and may include:
- Physical therapy to improve range of motion
- Surgery to correct bowed legs
- Growth hormone therapy to increase height
Prognosis[edit]
The prognosis for individuals with hypochondroplasia is generally good. Most people with the condition have a normal lifespan and are able to lead productive lives.
See also[edit]
References[edit]
<references />
