SNP Shot: Genomic Insights

Meier-Gorlin syndrome is mainly defined by significantly shorter than average height. It's classified as a type of primordial dwarfism because growth is restricted even before birth (intrauterine growth retardation). After birth, growth continues at a very slow pace. Other common features include underdeveloped or absent kneecaps (patellae), small ears, and frequently, an unusually small head size (microcephaly). Despite the smaller head size, cognitive abilities are typically normal in individuals with Meier-Gorlin syndrome.

Some individuals with Meier-Gorlin syndrome may also exhibit skeletal problems like unusually slender long bones in the arms and legs, knees that bend backwards (genu recurvatum), and delayed bone development.

A distinct facial appearance is common in people with Meier-Gorlin syndrome. Besides being small, the ears might be positioned lower than normal or rotated towards the back of the head. Additional facial characteristics can involve a small mouth (microstomia), a small and underdeveloped lower jaw (micrognathia), prominent lips, and a narrow nose with a pronounced bridge.

Issues with sexual development can also be present in Meier-Gorlin syndrome. Some affected males may have small or undescended testicles (cryptorchidism). Affected females might have underdeveloped external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females can experience sparse or absent underarm (axillary) hair.

Further symptoms of Meier-Gorlin syndrome may include feeding difficulties, a lung condition called pulmonary emphysema, or other respiratory issues.

Inheritance:

Meier-Gorlin syndrome follows an autosomal recessive inheritance pattern. This means that a mutation must be present in both copies of the responsible gene in each cell for the condition to manifest. Individuals with an autosomal recessive condition inherit one copy of the mutated gene from each parent, who are usually carriers but do not display symptoms themselves.