SNP Shot: Genomic Insights

Peters plus syndrome is a genetic disorder passed down through families. Its key features include eye defects, short stature, a cleft lip (with or without a cleft palate), distinctive facial characteristics, and intellectual disability.

The eye problems associated with Peters plus syndrome primarily affect the front part of the eye, known as the anterior segment. This area includes the lens, iris (the colored part), and cornea (the clear covering). A common eye abnormality is Peters anomaly, involving abnormal development of the anterior segment. This results in a cloudy cornea (opaque), leading to blurred vision. Cataracts or other lens abnormalities can also occur. Peters anomaly usually affects both eyes (bilateral), and the severity of corneal clouding and other eye issues can vary significantly among affected individuals, even within the same family. Many experience progressive vision loss.

Short stature is present in all individuals with Peters plus syndrome, becoming apparent even before birth. Adult males typically range from 4'7" to 5'1" in height (141-155 cm), while adult females range from 4'2" to 4'11" (128-151 cm). Shortened upper limbs (rhizomelia) and short fingers and toes (brachydactyly) are also characteristic.

Distinctive facial features include a prominent forehead, small and malformed ears, narrow eyes, a long philtrum (the area between the nose and mouth), and a pronounced Cupid's bow upper lip. A broad and webbed neck may also be present. A cleft lip, sometimes accompanied by a cleft palate, is observed in about half of affected individuals.

Most children with Peters plus syndrome experience delays in developmental milestones such as walking and speech. Intellectual disability, ranging from mild to severe, is also common, although some individuals have normal intelligence. The severity of physical features does not correlate with the level of intellectual disability.

Less common features of Peters plus syndrome can include heart defects, structural abnormalities in the brain, hearing loss, and abnormalities of the kidneys or genitals.

Inheritance:

Peters plus syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the responsible gene from both parents to develop the condition. The parents, who each carry one copy of the mutated gene, are typically unaffected carriers and do not exhibit symptoms.