Seckel syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vidit Bhargava, M.B.B.S [2]

Synonyms and keywords:

Seckel syndrome 1: Bird-headed dwarfism; Microcephalic Primordial Dwarfism 1; Nanocephalic dwarfism; Seckel-type dwarfism Seckel syndrome 2: Bird-headed dwarfism 2; Microcephalic Primordial Dwarfism 2; Seckel-type dwarfism 2

Overview

The Seckel syndrome or microcephalic primordial dwarfism is a congenital nanosomic disorder supposed to be caused by defects of genes onchromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.

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

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History

A directed history should be obtained to ascertain

Symptoms

  • Small chin
  • Unusually large eyes

Physical Examination

Laboratory Findings

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

References


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