Seckel syndrome: Difference between revisions
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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 ATR which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism. | 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 ATR which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism. | ||
==Historical Perspective== | |||
The syndrome was named after Rudolf Virchow and Helmut Paul George Seckel (American physician, 1900–1960) | The syndrome was named after Rudolf Virchow and Helmut Paul George Seckel (American physician, 1900–1960). | ||
==Classification== | ==Classification== | ||
Revision as of 15:38, 19 November 2013
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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
The syndrome was named after Rudolf Virchow and Helmut Paul George Seckel (American physician, 1900–1960).
Classification
Pathophysiology
Genetics
Associated Conditions
Gross Pathology
Microscopic Pathology
Differential Diagnosis
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History
A directed history should be obtained to ascertain
Symptoms
- Achondroplasia
- Cryptorchidism
- Dislocations of pelvis and elbow
- Low birth weight
- Low ears
- Microcephaly
- Pancytopenia
- Severe mental retardation (more than half of the patients have an IQ below 50)
- Small chin
- Unusually large eyes