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.

Retrognathia

An abnormality in which the mandible is mislocalised posteriorly.


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PMID (PMCID)
19839044
 MIXED_SAMPLE Infant, Newborn
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G.
Am J Med Genet A. 2009;149A(11):2452-6.
We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome.