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Related Concept Videos

Functional Classification of Joints01:09

Functional Classification of Joints

Functional Classification of Joints
The functional classification of joints is determined by the amount of mobility between the adjacent bones. Joints are functionally classified as a synarthrosis or immobile joint, an amphiarthrosis or slightly moveable joint, or as a diarthrosis, a freely moveable joint. Fibrous and cartilaginous joints can be functionally classified as either synarthroses  or amphiarthroses, whereas all synovial joints are classified as diarthroses.
Synarthrosis
An immobile...
Structural Joints: Fibrous Joints01:03

Structural Joints: Fibrous Joints

Fibrous joints are a type of joint where the bones are connected by fibrous connective tissue. These joints provide stability and minimal to no movement between the articulating bones. There are three types of fibrous joints.
Suture
All the bones of the skull, except for the mandible, are joined to each other by a fibrous joint called a suture. The fibrous connective tissue found at a suture strongly unites the adjacent skull bones and thus helps to protect the brain and form the face. In...
Development of the Limb Synovial Joints01:07

Development of the Limb Synovial Joints

Joints form during embryonic development in conjunction with the formation and growth of the associated bones. The embryonic tissue that gives rise to all bones, cartilage, and connective tissues of the body is called mesenchyme.
The mesenchymal stem cells differentiate into chondrocytes that form the hyaline cartilage, and later the cartilaginous model of the bone. This model further transforms into a bone. This process is known as endochondral ossification.
During development, the limbs...
Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Structural Joints: Cartilaginous Joints01:17

Structural Joints: Cartilaginous Joints

As the name indicates, at a cartilaginous joint, the adjacent bones are united by cartilage, a tough but flexible type of connective tissue. Unlike synovial joints, these types of joints lack a joint cavity and involve bones joined together by either hyaline cartilage or fibrocartilage.
There are two types of cartilaginous joints:
Synchondrosis
A synchondrosis ("joined by cartilage") is a cartilaginous joint where bones are connected by hyaline cartilage. Synchondrosis may be temporary or...

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Related Experiment Video

Updated: May 20, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Acrodysostosis.

C Silve1, E Clauser, A Linglart

  • 1INSERM U986, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Hôpital de Bicêtre, Le Kremlin Bicêtre, France. Caroline.Silve@inserm.fr

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme
|July 21, 2012
PubMed
Summary
This summary is machine-generated.

Acrodysostosis, a rare skeletal dysplasia, is now understood to have genetic causes linked to specific mutations. This research reviews its features and pathogenesis, particularly acrodysostosis with hormonal resistance (ADOHR).

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Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology
  • Skeletal Dysplasias

Background:

  • Acrodysostosis is a rare skeletal dysplasia with characteristic brachydactyly, facial dysostosis, and nasal hypoplasia.
  • Historically, acrodysostosis encompassed heterogeneous phenotypes, leading to diagnostic challenges.
  • Recent genetic findings are enabling classification based on molecular etiology.

Purpose of the Study:

  • To review the clinical, radiological, and metabolic features of acrodysostosis.
  • To elucidate the pathogenesis of acrodysostosis with hormonal resistance (ADOHR).
  • To compare ADOHR with other PTHR1 pathway defects like pseudohypoparathyroidism.

Main Methods:

  • Literature review of clinical and genetic studies on acrodysostosis.
  • Analysis of recent research on the molecular mechanisms of ADOHR.
  • Comparative analysis of ADOHR and related disorders.

Main Results:

  • Mutations affecting cAMP binding to PRKAR1A are linked to typical acrodysostosis and hormonal resistance.
  • Evidence suggests multiple forms of acrodysostosis exist.
  • Pathogenesis of ADOHR is being elucidated through molecular studies.

Conclusions:

  • Genetic categorization is revolutionizing the understanding of acrodysostosis.
  • ADOHR represents a distinct entity within the acrodysostosis spectrum.
  • Understanding PTHR1 pathway defects is crucial for differentiating related skeletal dysplasias.