Related Experiment Video

Updated: Oct 11, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Further delineation of the DOOR syndrome

A Rajab1, A Riaz, G Paul

  • 1Department of Pediatrics, Royal Hospital, Muscat, Sultanate of Oman.

Clinical Dysmorphology
|October 25, 2000
PubMed

Insights

DOOR syndrome, a rare genetic disorder, presents with deafness, onychodystrophy, osteodystrophy, microcephaly, and developmental delays. Increased 2-oxoglutarate indicates a severe, often lethal, phenotype.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurology

Background:

  • DOOR syndrome is a rare genetic disorder.
  • Characterized by a distinct set of physical and developmental anomalies.

Observation:

  • Two related sibships exhibited features of DOOR syndrome.
  • Clinical manifestations included deafness, onychodystrophy, osteodystrophy, microcephaly, global developmental retardation, and progressive blindness.
  • Seizures with hypsarrhythmia were frequent and difficult to manage.

Findings:

  • MRI revealed reduced myelination in one patient.
  • Urine organic acid analysis showed a tenfold increase in 2-oxoglutarate.
  • Placental cysts were observed in one case, a feature seen in other metabolic diseases.

Implications:

  • Suggests potential genetic heterogeneity within DOOR syndrome.
  • Elevated 2-oxoglutarate correlates with a severe, frequently lethal phenotype.
  • Highlights the importance of metabolic investigations in DOOR syndrome diagnosis.

More Related Videos

Iris Fixation via External Pentagram Suturing05:22

Iris Fixation via External Pentagram Suturing

Published on: May 5, 2022

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...
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation01:30

Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation

Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...