Primordial Dwarfism is charcterized by growth that is profoundly restricted from early in deveopment which continues postnatally. In line with other parts of the body, most individuals with primordial dwarfism also have a reduction in head size in proportion to, or smaller than, their body size. Microcephalic Primordial Dwarfism is a heterogeneous group of disorders that include Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism and Meier-Gorlin syndrome. Core features of these groups include severe intrauterine and postnatal growth deficiency, severe postnatal short stature, primary microcephaly, characteristic facial features and variable intellectual disability. Meier-Gorlin syndrome is defined by absent/hypoplastic patellae and markedly small ears. Many cases have normal intellect with proportionate microcephaly. Growth failure is variable and can be mild.
Our Meier-Gorlin Sequencing Panel includes sequence analysis of the following 5 genes: CDC6, CDT1, ORC1, ORC4, ORC6.
Any gene in the Meier-Gorlin Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.