SNP Shot: Genomic Insights

3MC syndrome is a condition marked by distinct facial characteristics and issues impacting various body tissues and organs.

Individuals with 3MC syndrome often display specific facial features, such as widely set eyes (hypertelorism), narrowed eye openings (blepharophimosis), drooping eyelids (ptosis), prominent, arched eyebrows, and a cleft lip, frequently accompanied by a cleft palate.

Additional common characteristics of 3MC syndrome include delayed development, intellectual disability, hearing impairment, and slowed growth after birth leading to short stature. Less frequently, individuals may experience premature fusion of skull bones (craniosynostosis) or forearm bones (radioulnar synostosis), a tailbone protrusion (caudal appendage), an umbilical hernia, and abnormalities affecting the kidneys, bladder, or genitalia.

The term 3MC syndrome now encompasses what were previously recognized as four separate disorders: Mingarelli syndrome, Malpeuch syndrome, Michels syndrome, and Carnevale syndrome. Current research generally views these as manifestations of the same underlying condition, hence the collective name 3MC, derived from the initials of the original syndrome names.

Inheritance:

3MC syndrome follows an autosomal recessive inheritance pattern. This means that for the condition to manifest, an individual must inherit two copies of the mutated gene, one from each parent. The parents, who each carry a single copy of the mutated gene, are typically unaffected and do not exhibit any signs or symptoms of the syndrome.