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Related Concept Videos

Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Social Anxiety Disorder01:28

Social Anxiety Disorder

Social anxiety disorder, also known as social phobia, is characterized by an intense fear of social situations where one might face humiliation, rejection, embarrassment, or negative evaluation. This disorder leads individuals to avoid activities like casual conversations, public speaking, or seemingly simple tasks such as eating, signing documents, or swimming, in public settings. Its impact extends beyond discomfort, often significantly interfering with daily functioning and quality of life.
Panic Disorder01:27

Panic Disorder

Panic disorder is an anxiety disorder characterized by recurrent and sudden minutes-long episodes of intense fear, known as panic attacks. These attacks may feel like heart attacks and often happen without warning or a specific cause. They can include symptoms such as rapid heart rate, shortness of breath, chest pain, trembling, sweating, dizziness, and a sense of helplessness. During a panic attack, individuals may feel as though they are experiencing a heart attack or are in a...
Obsessive-Compulsive Disorder01:28

Obsessive-Compulsive Disorder

Obsessive-compulsive disorder (OCD) is a mental health condition characterized by recurrent obsessions, compulsions, or both, which consume significant time and interfere with daily functioning. Obsessions involve persistent, intrusive, and unwanted thoughts, images, or urges that evoke anxiety. Common examples include irrational fears of contamination or harm. Compulsions are repetitive behaviors or mental acts performed to reduce the anxiety caused by obsessions. For instance, individuals...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: May 21, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Do you know this syndrome?

Luiz Maurício Costa Almeida1, Michelle dos Santos Diniz, Lorena dos Santos Diniz

  • 1Santa Casa de Misericordia de Belo Horizonte, MG, Brazil.

Anais Brasileiros De Dermatologia
|June 21, 2012
PubMed
Summary

Goldenhar syndrome, a genetic disorder affecting first and second branchial arches, presents with facial and vertebral anomalies. Diagnosis relies on clinical, systemic, and radiologic evaluation for effective management.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder.
  • It is characterized by anomalies of the first and second branchial arches, leading to craniofacial and vertebral defects.

Observation:

  • Key features include limbal dermoids, preauricular appendages, and mandibular hypoplasia.
  • Vertebral abnormalities, such as hemivertebrae or fused vertebrae, may also be present.
  • The syndrome's incidence varies, reported between 1 in 5,600 to over 1 in 20,000 live births.

Findings:

  • The etiology of Goldenhar syndrome is considered heterogeneous, with both sporadic and inherited forms documented.
  • Diagnosis is primarily clinical, integrating patient's systemic conditions and radiographic findings.

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  • The syndrome involves complex developmental disruptions affecting multiple embryonic structures.

    • Implications:

    • Early and accurate diagnosis is crucial for timely intervention.
    • A multidisciplinary approach involving various medical specialists is often necessary for comprehensive patient care.
    • Understanding the heterogeneous etiology may lead to improved diagnostic and therapeutic strategies for Goldenhar syndrome.