Skeletal dysplasia

Common Name(s)

Skeletal dysplasia

Skeletal dysplasia refers to a group of disorders causing abnormal bone and cartilage growth. There are more than 350 types of skeletal dysplasias, ranging in severity from having minimal effects on daily life to being universally fatal. Skeletal dysplasias are the most common causes of dwarfism. Skeletal dysplasia occurs in about 0.02% of all births, although the symptoms are typically not noticeable until later in childhood. Skeletal dysplasia may be caused by inherited genes, random mutations or changes in genes, or exposure to toxins that disrupt normal skeletal development.

Common symptoms of skeletal dysplasia include joint pain, clubbed feet, scoliosis, and short fingers. Individuals affected by skeletal dysplasia will often have shortened height, shortened or differing bone lengths in the arms and legs, and irregular thickness of bones. Skeletal dysplasia may also cause bones to become curved (bowed) or easily fractured. Other common symptoms include abnormal ribs, missing limbs, too many fingers or toes, and a small thorax, which is the area between the neck and the abdomen. Improper bone growth may also delay development and impair mental functioning. Children diagnosed with skeletal dysplasia should be examined by specialists to ensure healthy development of the brain and spinal cord.

Diagnosis of skeletal dysplasia may be difficult until after childhood growth may be assessed. Comparing the size of the upper and lower limbs of the body may help determine the presence of abnormalities. Medical imaging and genetic testing are also used to diagnose skeletal dysplasia. Treatment for skeletal dysplasia depends on the subtype and symptoms affecting the individual. Fatal forms will result in premature death, while other forms will allow the individual to live a normal life with minimal treatment or intervention. If you or your child has been diagnosed with skeletal dysplasia, talk to your doctor about the most current treatment options.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Skeletal dysplasia" 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 "Skeletal dysplasia" returned 82 free, full-text research articles on human participants. First 3 results:

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
 

Author(s): Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li, Qiwei Guo

Journal:

 

Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the glycine to bulky amino acid substitutions (e.g., glycine to serine) in the ...

Last Updated: 31 Dec 1969

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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
 

Author(s): Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bouron-Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau

Journal: J. Bone Miner. Res.. 2017 Sep;32(9):1853-1859.

 

Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in ...

Last Updated: 31 Dec 1969

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Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.
 

Author(s): Yi-Ching Lee, I-Wen Song, Ya-Ju Pai, Sheng-De Chen, Yuan-Tsong Chen

Journal:

 

Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing ...

Last Updated: 31 Dec 1969

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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 "Skeletal dysplasia" returned 7 free, full-text review articles on human participants. First 3 results:

Skeletal dysplasia: Respiratory management during infancy.
 

Author(s): Deepthi Alapati, Thomas H Shaffer

Journal: Respir Med. 2017 10;131():18-26.

 

Skeletal dysplasia encompasses a variety of developmental disorders of the bone and cartilage that manifest as disproportionate shortening of limbs and trunk in the neonate. Many types of skeletal dysplasia are complicated by respiratory failure at or soon after birth and require ...

Last Updated: 31 Dec 1969

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Advances in Skeletal Dysplasia Genetics.
 

Author(s): Krista A Geister, Sally A Camper

Journal: Annu Rev Genomics Hum Genet. 2015 ;16():199-227.

 

Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic ...

Last Updated: 31 Dec 1969

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Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
 

Author(s): Sang Sun Kang, Sung Hwa Shin, Chung-Kyoon Auh, Jaesun Chun

Journal: Exp. Mol. Med.. 2012 Dec;44(12):707-22.

 

The transient receptor potential vanilloid 4 (TRPV4) cation channel, a member of the TRP vanilloid subfamily, is expressed in a broad range of tissues where it participates in the generation of Ca²⁺ signals and/or depolarization of the membrane potential. Regulation of TRPV4 abundance ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Morquio Disease
 

Status: Not yet recruiting

Condition Summary: Abnormal Skeletal Development

 

Last Updated: 24 Aug 2018

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North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
 

Status: Recruiting

Condition Summary: Epilepsy; Seizure; Neuromuscular Diseases; Brain Malformation; Intellectual Disability; Autism Spectrum Disorder; Hypotonia; Inborn Errors of Metabolism; Movement Disorders; Genetic Disease; Development Delay; Chromosome Abnormality; Hearing Loss; Dysmorphic Features; Skeletal Dysplasia; Congenital Abnormality; Microcephaly; Macrocephaly

 

Last Updated: 2 Oct 2018

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Natural History of Atypical Morquio A Disease
 

Status: Not yet recruiting

Condition Summary: Mucopolysaccharidosis IV A

 

Last Updated: 29 Jun 2017

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