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

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.

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

References

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