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.

Sparse scalp hair

Decreased number of head hairs per unit area.


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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.