Hypochondroplasia

Common Name(s)

Hypochondroplasia

Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypochondroplasia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hypochondroplasia" returned 18 free, full-text research articles on human participants. First 3 results:

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
 

Author(s): Hüseyin Anıl Korkmaz, Filiz Hazan, Ceyhun Dizdarer, Ajlan Tükün

Journal: J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):220-2.

 

Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in ...

Last Updated: 24 Dec 2012

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Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
 

Author(s): Lidia Castro-Feijóo, Lourdes Loidi, Anxo Vidal, Silvia Parajes, Elena Rosón, Ana Alvarez, Paloma Cabanas, Jesús Barreiro, Adela Alonso, Fernando Domínguez, Manuel Pombo

Journal: Eur. J. Endocrinol.. 2008 Sep;159(3):243-9.

 

Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been ...

Last Updated: 27 Aug 2008

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[Hypochondroplasia and mental retardation].
 

Author(s): J Rodríguez Delgado, J Guerrero Fernández, R Gracia Bouthelier

Journal: An Pediatr (Barc). 2008 Jun;68(6):629-32.

 

Last Updated: 18 Jun 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hypochondroplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.