SNP Shot: Genomic Insights

Feingold syndrome is a condition impacting various areas of the body. It presents in two forms, Type 1 and Type 2, differentiated by their underlying genetic causes. Despite the different causes, both types share similar characteristics, although the severity can vary from person to person.

A hallmark of both Feingold syndrome Type 1 and Type 2 is abnormalities in the fingers and toes. Nearly all affected individuals exhibit brachymesophalangy, a specific hand malformation characterized by shortened second and fifth fingers. Other frequent features include inwardly curved fifth fingers (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and webbing or fusion (syndactyly) between the second and third toes, or the fourth and fifth toes.

Beyond limb differences, common features of both types of Feingold syndrome include a smaller-than-normal head size (microcephaly), a small jaw (micrognathia), narrowed eye openings (short palpebral fissures), and mild to moderate learning difficulties. Less frequently, individuals may experience hearing impairment, reduced height (short stature), or abnormalities affecting the kidneys or heart.

A distinguishing feature of Feingold syndrome Type 1 is that affected individuals are often born with a blockage (atresia) in part of their digestive system. This blockage typically occurs in the esophagus (esophageal atresia) or in a section of the small intestine (duodenal atresia). Gastrointestinal atresias are not observed in individuals with Type 2.

Inheritance:

Feingold syndrome follows an autosomal dominant inheritance pattern. This means that having just one copy of the mutated gene in each cell is enough to cause the disorder.