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Hypochondroplasia

Field	Value
name	Hypochondroplasia
image	File:Autosomal dominant - en.svg
caption	Hypochondroplasia is autosomal dominant in inheritance.
symptoms	Skeletal dysplasia
causes	FGFR3 gene mutation
diagnosis	Physical finding, X-ray
treatment	Special education, Laminectomy

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.

Brachydactyly
Short stature
Micromelia
Skeletal dysplasia
Abnormality of femur

Cause

Hypochondroplasia is inherited as an autosomal dominant trait affecting the FGFR3 gene on chromosome 4p16.3. There is currently no cure for this condition.

Pathophysiology

This disorder results from mutations in the proximal tyrosine kinase domain of the FGFR3 gene.

Hypochondroplasia can be caused by point mutations such as p. Lys650Asn. and it seems to have a role in skeletal dysplasia.

Diagnosis

The diagnosis of this condition can be done via X-rays (with lack of normal distance L1 to L5), and additionally genetic testing is available to ascertain hypochondroplasia. However, the physical characteristics are one of the most important in determining the condition.

Treatment

Treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy. Genetic counseling is advised for individuals and their families. Specifically in the case of spinal stenosis, one option is laminectomy.

BioMarin Pharmaceutical is currently investigating the drug Voxzogo for treatment of Hypochondroplasia. The study is currently in a Phase 3 clinical trial.

Prognosis

Life expectancy for individuals with hypochondroplasia is normal; height is about 132 -.

References

(1 January 1993). "Hypochondroplasia". GeneReviews.
"Hypochondroplasia - Genetics Home Reference".
"Dwarfism: MedlinePlus".
"Hypochondroplasia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
"NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) AND Hypochondroplasia - ClinVar - NCBI".
(21 December 2016). "Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias". Human Mutation.
"OMIM Entry - # 146000 - HYPOCHONDROPLASIA; HCH".
"Hypochondroplasia - Conditions - GTR - NCBI".
"Orphanet: Hypochondroplasia".

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

skeletal-system growth-disorders cell-surface-receptor-deficiencies autosomal-dominant-disorders rare-diseases

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