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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Nature and Nurture01:10

Nature and Nurture

Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience, such as differences...
Alterations in Blood Pressure01:30

Alterations in Blood Pressure

Alterations in blood pressure, such as hypertension (high blood pressure) and hypotension (low blood pressure), significantly affect human health. Understanding these conditions' classifications, causes, and symptoms is essential for effective management and treatment.
Hypertension (High blood pressure)
Hypertension occurs when blood pressure readings consistently exceed the normal range. It is diagnosed when systolic blood pressure (the top number, indicating pressure while the heart beats)...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Pedigree Analysis01:35

Pedigree Analysis

Overview

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Articles linked to this work by shared authors, journal, and citation graph.

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Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

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[Incidence of type 1 diabetes in Navarre (2009-2016): higher in the southern regions of the autonomous community].

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Total antioxidant capacity and oxidative stress after a 10-week dietary intervention program in obese children.

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Related Experiment Video

Updated: Jun 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

[Low height and rare diseases].

Mj Chueca Guindulain1, S Berrade, M Oyarzábal

  • 1Servicio de Pediatría, Hospital Virgen del Camino, Pamplona, 31008, Spain.

Anales Del Sistema Sanitario De Navarra
|November 26, 2008
PubMed
Summary

Low stature in children often stems from normal variations but can indicate rare diseases (RD). Early diagnosis of these conditions, like Turner

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Rare Diseases

Context:

  • Low stature is a primary reason for pediatric endocrinology consultations.
  • While often a variant of normal growth, approximately 20% of cases indicate underlying pathology requiring investigation.
  • Rare diseases are frequently associated with short stature in children.

Purpose:

  • To review the diverse etiologies of pathological low stature in children.
  • To highlight genetic causes, including growth hormone (GH) deficiencies and syndromes like Turner's, Noonan's, and Prader-Willi.
  • To discuss osseous dysplasias and genetic alterations, such as SHOX gene mutations.

Summary:

  • This review covers genetic growth hormone disorders, significant syndromes (Turner's, Noonan's, Prader-Willi), and osseous dysplasias linked to short stature.

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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts

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Last Updated: Jun 28, 2026

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  • Emphasis is placed on the diagnostic importance of identifying rare diseases for early and effective treatment, particularly with growth hormone therapy.
  • The article underscores the diagnostic challenges and advancements in molecular genetics for rare diseases presenting as low height.

    • Impact:

    • Early diagnosis of rare diseases associated with low stature enables timely and effective treatment, improving patient outcomes.
    • Advances in molecular genetics facilitate the identification of genetic causes of short stature.
    • A multidisciplinary approach and genetic counseling are crucial for managing complex cases and associated pathologies.