Meier-Gorlin syndrome [12 genes]

Meier-Gorlin syndrome (MGS) is a rare genetic disorder belonging to the group of microcephalic primordial dwarfisms, mainly characterized by pre- and postnatal short stature, microtia (small ears), hypoplastic or absent kneecaps, and distinct facial features such as micrognathia, full lips, a small mouth, and a narrow nose with a high nasal bridge.

Patients may also present with skeletal abnormalities (narrow long bones, genu recurvatum, and delayed bone age), alterations in sexual development (cryptorchidism, external genital hypoplasia, and sparse underarm hair), and, in some cases, breathing or feeding difficulties.
In spite of microcephaly, most affected individuals are intellectually normal, and their life expectancy is also normal.

• 1/1,000,000 individuals (ORPHA:2554)

The Meier-Gorlin Syndrome NGS Panel allows for the simultaneous analysis of the genes associated with this disease, enabling accurate molecular diagnosis in patients with disproportionally short stature, microtia, and patellar abnormalities or phenotypes compatible with primordial dwarfism, offering guidance for medical management and clinical follow-up, and providing genetic information to families for the purposes of counseling about risk of recurrence and reproductive options.

Service indicated upon suspicion of the disease.