Seckel Syndrome

Reference work entry

In 1960, Seckel reported 2 personal cases and 13 cases from the literature of a clinical condition characterized by severe intrauterine and postnatal proportionate dwarfism, severe microcephaly, “bird-headed” profile with receding forehead and chin, large and beaked nose, severe mental retardation, and other anomalies (Majewski and Goecke 1982). Seckel syndrome (SCKL) is a rare heterogeneous type of primordial dwarfism with frequency of less than 1 in 10,000 live births.

Synonyms and Related Disorders

Bird-headed dwarfism; Microcephalic primordial dwarfism; Nanocephalic dwarfism; Seckel-type dwarfism

Genetics/Basic Defects

  1. 1.

    Inheritance: autosomal recessive

  2. 2.
    Genetic heterogeneity
    1. a.
      SCKL1: A gene for Seckel syndrome was mapped to human chromosome 3q22.1–q24 in two inbred Pakistani families originating from the same village (Driscoll 2003).
      1. i.

        The gene encoding ataxia-telangiectasia and Rad3-related protein (ATR) maps to the critical region to an interval of 5Mbp between markers...


Patent Ductus Arteriosus Radial Head Cranial Suture Premature Closure Intestinal Atresia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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