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 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 (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

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Associated Conditions

Gross Pathology

Microscopic Pathology

Differential Diagnosis

Epidemiology and Demographics

Risk Factors

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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

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Treatment

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