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
Inheritance: autosomal recessive
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).
The gene encoding ataxia-telangiectasia and Rad3-related protein (ATR) maps to the critical region to an interval of 5Mbp between markers...
KeywordsPatent Ductus Arteriosus Radial Head Cranial Suture Premature Closure Intestinal Atresia
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