Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Severe short stature

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.


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PMID (PMCID)
12153610
 FEMALE Infant
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3.
Schmidt A, Chakravarty A, Brommer E, Fenne BD, Siebler T, De Meyts P, Kiess W.
Clin Endocrinol (Oxf). 2002;57(2):293-9.
Seckel syndrome is an autosomal-recessive disorder with a frequency of less than 1/10 000 births in which there are multiple malformations including severe short stature.
4040172
 MIXED_SAMPLE Child
Seckel syndrome: an overdiagnosed syndrome.
Thompson E, Pembrey M.
J Med Genet. 1985;22(3):192-201.
One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed.