Seckel syndrome

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List of terms related to Seckel syndrome

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; Harper's Syndrome; Virchow-Seckel Syndrome

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.It is characterized by Intrauterine growth retardation, along with growth & developmental delays even after birth. There are characteristic bird like facies with a beak like nose, microcephalic head, micrognathia(small head) and malformed ears. 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).

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

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