SNP Shot: Genomic Insights

Bowen-Conradi syndrome is a severe, often fatal disorder in infancy that impacts various bodily systems. Infants with this condition are born with low weight, struggle with feeding, and exhibit significantly delayed growth. They have microcephaly (an abnormally small head), characterized by dolichocephaly (a head that is longer than it is wide). Distinctive facial characteristics include a prominent nose with a high bridge, and micrognathia (an unusually small jaw and chin). Additional common features include clinodactyly (curved pinky fingers) or camptodactyly (permanently bent pinky fingers), rocker-bottom feet (feet with rounded soles), and limited joint mobility.

Some individuals with Bowen-Conradi syndrome may also experience seizures, structural anomalies of organs such as the kidneys, heart, or brain, and cleft lip (with or without cleft palate). Affected males might present with hypospadias (urethral opening on the underside of the penis) or cryptorchidism (undescended testicles).

Infants with Bowen-Conradi syndrome fail to reach typical developmental milestones, such as smiling or sitting, and generally do not live beyond six months.

Inheritance:

Bowen-Conradi syndrome follows an autosomal recessive inheritance pattern. This means that for an individual to be affected, both copies of the responsible gene within their cells must have mutations. The parents of an affected child each carry one copy of the mutated gene but are typically asymptomatic (do not show any signs or symptoms of the condition).