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; 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).

Classification

The classification is based on the gene locus carrying the specific mutation.

SCKL1 casued by mutation in ATR gene on chromosome 3q22.1-q24;SCKL2 by RBBP8 gene on chromosome 18q11; SCKL3 on chromosome 14q; SCKL4 by CENPJ gene on chromosome 13q12; SCKL5 by CEP152 gene on chromosome 15q21; SCKL6 by CEP63 gene on chromosome 3q22; and SCKL7 by NIN gene on chromosome 14q22.

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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