Seckel syndrome: Difference between revisions

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VisualWikitext

Revision as of 14:47, 19 November 2013

For patient information, click Insert page name here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords:

Overview

Historical Perspective

Classification

Pathophysiology

Genetics

Associated Conditions

Gross Pathology

Microscopic Pathology

Causes

Life Threatening Causes

Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.

Common Causes

Causes by Organ System

Cardiovascular	No underlying causes
Chemical / poisoning	No underlying causes
Dermatologic	No underlying causes
Drug Side Effect	No underlying causes
Ear Nose Throat	No underlying causes
Endocrine	No underlying causes
Environmental	No underlying causes
Gastroenterologic	No underlying causes
Genetic	No underlying causes
Hematologic	No underlying causes
Iatrogenic	No underlying causes
Infectious Disease	No underlying causes
Musculoskeletal / Ortho	No underlying causes
Neurologic	No underlying causes
Nutritional / Metabolic	No underlying causes
Obstetric/Gynecologic	No underlying causes
Oncologic	No underlying causes
Opthalmologic	No underlying causes
Overdose / Toxicity	No underlying causes
Psychiatric	No underlying causes
Pulmonary	No underlying causes
Renal / Electrolyte	No underlying causes
Rheum / Immune / Allergy	No underlying causes
Sexual	No underlying causes
Trauma	No underlying causes
Urologic	No underlying causes
Dental	No underlying causes
Miscellaneous	No underlying causes

Causes in Alphabetical Order

A...
Z...

Make sure that each diagnosis is linked to a page.

Differentiating type page name here from other Diseases

Epidemiology and Demographics

Age

Gender

Race

Developed Countries

Developing Countries

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History

A directed history should be obtained to ascertain

Symptoms

"Type symptom here" is pathognomonic of the "type disease name here".

"Type non specific symptoms" may be present.

Past Medical History

Family History

Social History

Occupational

Alcohol

The frequency and amount of alcohol consumption should be characterized.

Drug Use

Smoking

Allergies

Physical Examination

Appearance of the Patient

Vital Signs

Skin

Head

Eyes

Ear

Nose

Mouth

Throat

Heart

Lungs

Abdomen

Extremities

Neurologic

Genitals

Other

Laboratory Findings

Electrolyte and Biomarker Studies

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Pharmacotherapy

Acute Pharmacotherapies

Chronic Pharmacotherapies

Surgery and Device Based Therapy

Indications for Surgery

Pre-Operative Assessment

Post-Operative Management

Transplantation

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

References

Template:WikiDoc Sources

@@ Line 1: / Line 1: @@
-{{Infobox_Disease |
+__NOTOC__
-  Name           = {{PAGENAME}} |
-  Image          = |
-  Caption        = |
-  DiseasesDB     = 31625 |
-  ICD10          = {{ICD10|Q|87|1|q|80}}  |
-  ICD9           = |
-  ICDO           = |
-  OMIM           = 210600 |
-  MedlinePlus    = |
-  eMedicineSubj  = |
-  eMedicineTopic = |
-  MeshID         = |
-}}
 {{SI}}
+'''For patient information, click [[Insert page name here (patient information)|Insert page name here]]'''
-==Overview==
+{{CMG}}
-The '''Seckel syndrome''' or '''microcephalic [[primordial dwarfism]]''' is a [[congenital]] [[dwarfism|nanosomic]] disorder supposed to be caused by defects of genes on '''[[chromosome]] 3''' and '''18'''. One form of Seckel syndrome can be caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein ({{Gene|ATR}}) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.
-==Symptoms==
+{{SK}}
-Symptoms include:
-* severe mental retardation (more than half of the patients have an IQ below 50)
-* [[achondroplasia]]
-* [[microcephaly]]
-* sometimes [[pancytopenia]]
-* [[cryptorchidism]]
-* low birth weight
-* dislocations of pelvis and elbow
-* unusually large eyes
-* low ears
-* small chin
-==External links==
+== Overview ==
-* {{WhoNamedIt|synd|869}}
-[[Category:Congenital disorders]]
+==Historical Perspective==
-{{Phakomatoses and other congenital malformations not elsewhere classified}}
+==Classification==
+== Pathophysiology==
+=== Genetics ===
+=== Associated Conditions===
+===Gross Pathology===
+===Microscopic Pathology===
+==Causes==
+===Life Threatening Causes===
+Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.
+===Common Causes===
+===Causes by Organ System===
+{|style="width:80%; height:100px" border="1"
+|style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" | '''Cardiovascular'''
+|style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Chemical / poisoning'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Dermatologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Drug Side Effect'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Ear Nose Throat'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Endocrine'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Environmental'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Gastroenterologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Genetic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Hematologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Iatrogenic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Infectious Disease'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Musculoskeletal / Ortho'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Neurologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Nutritional / Metabolic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Obstetric/Gynecologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Oncologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Opthalmologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Overdose / Toxicity'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Psychiatric'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Pulmonary'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Renal / Electrolyte'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Rheum / Immune / Allergy'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Sexual'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Trauma'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Urologic'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Dental'''
+|bgcolor="Beige"| No underlying causes
+|-
+|-bgcolor="LightSteelBlue"
+| '''Miscellaneous'''
+|bgcolor="Beige"| No underlying causes
+|-
+|}
+===Causes in Alphabetical Order===
+*A...
+*Z...
+Make sure that each diagnosis is linked to a page.
+==Differentiating type page name here from other Diseases==
+== Epidemiology and Demographics ==
+===Age===
+===Gender===
+===Race===
+===Developed Countries===
+===Developing Countries===
+== Risk Factors ==
+== Screening ==
+== Natural History, Complications and Prognosis==
+== Diagnosis ==
+===History===
+A directed history should be obtained to ascertain
+=== Symptoms ===
+"Type symptom here" is pathognomonic of the "type disease name here".
+"Type non specific symptoms" may be present.
+===Past Medical History===
+===Family History===
+===Social History===
+====Occupational====
+====Alcohol====
+The frequency and amount of alcohol consumption should be characterized.
+====Drug Use====
+====Smoking====
+===Allergies===
+=== Physical Examination ===
+==== Appearance of the Patient ====
+====Vital Signs====
+====Skin====
+====Head====
+==== Eyes ====
+==== Ear ====
+====Nose====
+====Mouth====
+====Throat ====
+==== Heart ====
+==== Lungs ====
+==== Abdomen ====
+==== Extremities ====
+==== Neurologic ====
+====Genitals====
+==== Other ====
+=== Laboratory Findings ===
+==== Electrolyte and Biomarker Studies ====
+==== Electrocardiogram ====
+==== Chest X Ray ====
+====CT ====
+==== MRI ====
+==== Echocardiography or Ultrasound ====
+==== Other Imaging Findings ====
+=== Other Diagnostic Studies ===
+== Treatment ==
+=== Pharmacotherapy ===
+==== Acute Pharmacotherapies ====
+==== Chronic Pharmacotherapies ====
+=== Surgery and Device Based Therapy ===
+==== Indications for Surgery ====
+==== Pre-Operative Assessment ====
+==== Post-Operative Management ====
+==== Transplantation ====
+=== Primary Prevention ===
+=== Secondary Prevention ===
+=== Cost-Effectiveness of Therapy ===
+=== Future or Investigational Therapies ===
+==References==
+{{Reflist|2}}
 {{WikiDoc Help Menu}}
 {{WikiDoc Sources}}
+[[Category:Disease]]
+[[Category:Help]]