SNP Shot: Genomic Insights

Kaufman oculocerebrofacial syndrome is a rare genetic condition defined by a combination of eye (oculo-), brain (-cerebro-, indicating intellectual disability), and distinct facial features (-facial) abnormalities.

Most individuals affected by Kaufman oculocerebrofacial syndrome present with microcephaly (an abnormally small head). Some also have structural brain anomalies. Hypotonia (weak muscle tone) is common, leading to delays in achieving motor milestones such as walking. Intellectual disability ranges from severe to profound, and most affected individuals do not develop speech.

The nature and severity of eye problems vary among individuals with Kaufman oculocerebrofacial syndrome. These may include microphthalmia (abnormally small or poorly developed eyes), microcornea (a small and abnormally curved cornea, the clear front of the eye), coloboma (missing tissue in the eye's structures), and optic nerve hypoplasia (underdevelopment of the nerves connecting the eyes to the brain). Other possible eye-related issues are strabismus (misaligned eyes), myopia (nearsightedness), hyperopia (farsightedness), and entropion (inward turning of the lower eyelid).

A characteristic pattern of facial features is typical in Kaufman oculocerebrofacial syndrome. These features include highly arched eyebrows, telecanthus (increased distance between the inner corners of the eyes), blepharophimosis (narrowing of the eye opening), epicanthal folds (skin folds covering the inner corners of the eyes), ptosis (droopy eyelids), and upslanting palpebral fissures (outer corners of the eyes that slant upward). Ear anomalies may include low-set ears with small lobes and preauricular tags (skin tags in front of the ears). The nose often has a narrow bridge, a wide base, and anteverted nares (nostrils that point forward). Other facial characteristics can include flattened cheeks, a long and smooth philtrum (the area between the nose and upper lip), a narrow mouth, and micrognathia (an unusually small jaw).

Additional signs and symptoms that can occur in individuals with this syndrome are short stature, hearing loss, and abnormalities affecting the heart, respiratory system, gastrointestinal system, kidneys, genitals, or skeletal system. Individuals with Kaufman oculocerebrofacial syndrome can survive into adulthood; however, their average lifespan is not well-established due to the limited number of diagnosed cases.

Inheritance:

Kaufman oculocerebrofacial syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene (one from each parent) to be affected. The parents, each carrying one copy of the mutated gene, are typically asymptomatic carriers.