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.

Growth delay

A deficiency or slowing down of growth pre- and postnatally.


合計: 2

                       


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PMID (PMCID)
17921644
 FEMALE
Bird-headed dwarf of Seckel.
Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D.
J Indian Soc Pedod Prev Dent. 2007;25 Suppl:S8-9.
Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth resulting in low birth weight.
17300651
 FEMALE
Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome.
Brackeen A, Babb-Tarbox M, Smith J.
Pediatr Dermatol. 2007;24(1):53-6.
Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.